FIRST ASIA INSTITUTE OF TECHNOLOGY AND HUMANITIES

COLLEGE OF ALLIED HEALTH SCIENCES

BIOCHEMISTRY
CASE STUDIES ON NON-GENETIC RELATED ENZYME DYSFUNCTIONS

PREPARED BY:
Cueto, Andrea Kim M.
Endaya, Fatima Kesshie D.
Estrella, Rhena A.
Gloriani, John Lhester F.
Mercado, Erich L.
Morcilla, Renz Cedric S.
Selda, Chastine Pauline L.
Vailoces, Angelo Lindley J.

SUBMITTED TO:
Mrs. Mary Jane T. Coloma

October 18, 2024

 INTRODUCTION

Enzymes catalyze biochemical reactions that are essential for metabolism, cell
signaling, and various physiological processes. A defect can disrupt these critical
pathways. Enzymes often operate within complex metabolic pathways. A defect in one
enzyme can lead to the accumulation of substrates or the depletion of products, causing
a cascade of metabolic disruptions. Enzymes are usually highly specific, meaning that a
defect can have significant effects on specific metabolic functions. This specificity often
results in recognizable clinical phenotypes associated with particular enzyme
deficiencies. Some enzymes are critical during specific developmental stages. Defects
can lead to developmental disorders that may not be evident until later in life.
 ACUTE PANCREATITIS

Case Study

A 45-year-old male with a history of alcohol abuse presents with severe

abdominal pain, elevated lipase, and amylase levels. Imaging reveals pancreatic
inflammation. Treatment involves supportive care and abstinence from alcohol.

Symptoms

The patient presented with severe abdominal pain, a common symptom of

pancreatitis. Pancreatitis can also cause nausea, vomiting, and tenderness in the
abdomen.

Diagnosis

Diagnostic tests involved blood test showing elevated lipase and amylase
levels, which are key indicators of pancreatic inflammation. Imaging (likely a CT scan
or ultrasound) confirmed the presence of pancreatic inflammation, which is consistent
with a diagnosis of acute pancreatitis.

Treatment

1. Supportive care was the primary treatment, which usually includes:

● IV fluids to maintain hydration.
● Pain management to control abdominal pain.
● Nutritional support, often with the patient being kept NPO (nothing by
mouth) initially to rest the pancreas.
2. Abstinence from alcohol was crucial because ongoing alcohol abuse is a major
cause of pancreatitis and can lead to recurrent episodes.
 The expected outcome with proper care is symptom relief and resolution of
inflammation. Long-term, alcohol abstinence is critical for preventing chronic
pancreatitis and further complications.

Enzymes

The enzymes involved are lipase and amylase, both of which are produced by
the pancreas to help break down fats (lipase) and carbohydrates (amylase). In acute
pancreatitis, these enzymes become activated while still inside the pancreas, leading to
autodigestion of pancreatic tissue, which causes the pain and inflammation observed.
The elevated enzyme levels in the blood are a direct result of this premature activation
and leakage into the bloodstream. Too much alcohol consumption stimulates the
pancreas to secrete more digestive enzymes, it causes the enzyme to be prematurely
activated in the pancreas instead of the intestines.

Complications

If the enzyme dysfunction and pancreatic inflammation are left untreated, several
complications can arise:

● Necrosis of pancreatic tissue, leading to death of parts of the pancreas.

● Pancreatic pseudocysts, which are fluid collections that can become infected.
● Systemic inflammation that can lead to multi-organ failure in severe cases.
● Chronic pancreatitis may develop with long-term damage, leading to permanent
dysfunction of the pancreas, which can cause diabetes (due to loss of insulin
production) and malabsorption (due to loss of digestive enzyme production).
● Alcohol toxicity itself can worsen these complications, making abstinence critical
for recovery
 CHRONIC LIVER DISEASE

Case Study

A 60-year-old female with fatigue, jaundice, and elevated ALT and AST levels is
diagnosed with alcoholic liver disease. Management includes lifestyle modifications,
nutritional support, and monitoring for complications like cirrhosis.

Symptoms

● Abnormal nerve function

● Ascites (fluid buildup in the abdominal cavity)
● Breast enlargement in men
● Coughing up or vomiting blood
● Curling of fingers (Dupuytren's disease of the palms)
● Gallstones
● Hair loss
● Itching
● Jaundice (yellowing of the skin and eyes)
● Kidney failure
● Liver encephalopathy
● Muscle loss
● Poor appetite
● Portal hypertension
● Redness of palms
● Salivary gland enlargement in cheeks
● Shrinking of testes
● Spider Like veins in the skin
● Weakness
● Weight loss
Diagnosis

A series of special blood tests can often determine whether or not the liver is
functioning properly. These tests can also distinguish between acute and chronic
liver disorders and between hepatitis and cholestasis.

The most commonly performed blood tests include the following:

➔ Serum bilirubin test: This test measures the levels of bilirubin in the
blood. Bilirubin is produced by the liver and is excreted in the bile.
Elevated levels of bilirubin may indicate an obstruction of bile flow or a
problem in the processing of bile by the liver.
➔ Serum albumin test: This test is used to measure the level of albumin (a
protein in the blood) and aides in the diagnosis of liver disease.
➔ Serum alkaline phosphatase test: This test is used to measure the level
of alkaline phosphatase (an enzyme) in the blood. Alkaline phosphatase is
found in many tissues, with the highest concentrations in the liver, biliary
tract, and bone. This test may be performed to assess liver functioning
and to detect liver lesions that may cause biliary obstruction, such as
tumors or abscesses.
➔ Serum aminotransferases (transaminases): This enzyme is released
from damaged liver cells.
➔ Prothrombin time (PTT) test: The prothrombin time test measures how
long it takes for blood to clot. Blood clotting requires vitamin K and a
protein that is made by the liver. Prolonged clotting may indicate liver
disease or other deficiencies in specific clotting factors.
➔ Alanine transaminase (ALT) test: This test measures the level of alanine
aminotransferase (an enzyme found predominantly in the liver) that is
released into the bloodstream after acute liver cell damage. This test may
be performed to assess liver function, and/or to evaluate treatment of
acute liver disease, such as hepatitis.
➔ Aspartate transaminase (AST) test: This test measures the level of
aspartate transaminase (an enzyme that is found in the liver, kidneys,
pancreas, heart, skeletal muscle, and red blood cells) that is released into
the bloodstream after liver or heart problems.
➔ Gamma-glutamyl transpeptidase test: This test measures the level of
gamma-glutamyl transpeptidase (an enzyme that is produced in the liver,
pancreas, and biliary tract). This test is often performed to assess liver
function, to provide information about liver diseases, and to detect alcohol
ingestion.
➔ Lactic dehydrogenase test: This test can detect tissue damage and
aides in the diagnosis of liver disease. Lactic dehydrogenase is a type of
protein (also called an isoenzyme) that is involved in the body's metabolic
process.
➔ 5'-nucleotidase test: This test measures the levels of 5'- nucleotidase (an
enzyme specific to the liver). The 5'- nucleotidase level is elevated in
persons with liver diseases, especially those diseases associated with
cholestasis (disruption in the formation of, or obstruction in the flow of
bile).
➔ Alpha-fetoprotein test: Alpha-fetoprotein (a specific blood protein) is
produced by fetal tissue and by tumors. This test may be performed
to monitor the effectiveness of therapy in certain cancers, such as
hepatomas.
➔ Mitochondrial antibodies test: The presence of these antibodies can
indicate primary biliary cirrhosis, chronic active hepatitis, and certain other
autoimmune disorders.
Ultrasound abdomen Ultrasound is one of the most commonly used and
affordable imaging tests for chronic liver disease. It helps detect changes in the
size and texture of the liver, which can indicate liver cirrhosis. Ultrasound also
has other uses in chronic liver disease, like measuring the size of the portal vein,
which can get larger in cases of portal hypertension. It can also check for clots in
the hepatic vein (linked to Budd-Chiari syndrome) and the portal vein in portal
vein thrombosis.

Computed tomography scan can clearly show a problem in the liver or a

blockage in the bile ducts, but a triphasic CT scan is the preferred test for
diagnosing liver cancer (hepatocellular carcinoma).

Transient elastography (TE) helps detect early stages of cirrhosis and can also
identify heart damage in patients with NAFLD (non-alcoholic fatty liver disease).
It operates using two physical methods: strain displacement and shear wave
imaging and measurement. The second method includes point shear wave
elastography, which measures how fast low-frequency (50 Hz) elastic shear
waves move through the liver. The stiffer the liver tissue, the faster these waves
move. This method can easily be used with an ultrasound machine. According to
the European Association for the Study of the Liver (EASL), TE is the most
effective way to diagnose cirrhosis in chronic liver disease.

Wedge hepatic venous pressure measures portal venous pressure in CLD.

Doppler scan can help in diagnosing Budd-Chiari and portal vein thrombosis.

EEG shows delta waves in hepatic encephalopathy.

An upper endoscopy can diagnose and treat esophageal varices. On

endoscopy, we can measure the size of varices. Small varices are less than 5
mm, and large varices are greater than 5 mm. An upper endoscopy, also known
as an upper gastrointestinal endoscopy, is a procedure used to look at your
upper digestive system. It involves a small camera attached to the end of a long,
flexible tube.
 A liver biopsy can confirm the diagnosis of chronic liver disease. Various
techniques to perform a liver biopsy are by laparoscope, transjugular, or
percutaneously.

Treatment

Medication. Acetylcysteine can treat acute liver failure caused by an

acetaminophen overdose, but it needs to be taken promptly. There are also
medications available that can counteract the effects of mushrooms or other
toxins.

Supportive care. If a virus causes liver failure, a hospital can treat your
symptoms until the virus runs its course. In these cases, the liver will sometimes
recover on its own.

Liver transplant. This could mean receiving a liver from a deceased donor or a
part of a liver from a live donor. A part of a healthy liver will grow to its normal
size after transplant. The number of Americans waiting for a liver transplant far
exceeds the number of livers available from deceased donors.

Surgery. This involves removing the diseased part of your liver, a procedure
called a liver resection, or hepatectomy. The healthy part of your liver will regrow.

Enzymes

Alanine aminotransferase (ALT) – An enzyme found mostly in the liver.

Elevated ALT levels often indicate liver damage, as it is released into the
bloodstream when liver cells are injured.

Aspartate aminotransferase (AST) – Like ALT, AST is found in the liver but also
in other organs such as the heart and muscles. High levels can indicate liver
damage, although it is less specific to the liver than ALT.
 Alkaline phosphatase (ALP) – This enzyme is present in the liver, bones, and
bile ducts. High ALP levels can indicate bile duct problems or liver disease,
especially when seen alongside other elevated liver enzymes.

Gamma-glutamyl transferase (GGT) – Elevated GGT levels can indicate bile

duct issues or alcohol-related liver disease, as it helps break down toxins in the
liver.

Lactate dehydrogenase (LDH) – Although not specific to the liver, elevated LDH
can be a marker of tissue damage, including in the liver, and is often seen in
various forms of liver disease.

Complications

● Cerebral edema. Fluid buildup is a problem with liver failure. In addition to your
belly, it can also pool in your brain and lead to high blood pressure there.
● Blood clotting problems. Your liver plays a big role in helping your blood clot.
When it can’t do that job, you’re at risk of bleeding too freely.
● Infections, such as pneumonia and urinary tract infections (UTIs).
End-stage liver disease can make you more likely to get infections.
● Kidney failure. Liver failure can change the way your kidneys work and lead to
failure.
● Esophageal varices, swollen veins in your lower esophagus
● hyperestrogenism, high levels of estrogen
● portal hypertension, high blood pressure in the main vein in your liver
● spontaneous bacterial peritonitis, bacterial infection of fluid in your abdomen
● coma or death
 DIABETES MELLITUS

Case Study

A 50-year-old male presents with fatigue, polyuria, and elevated blood glucose
levels. Insulin dysfunction leads to type 2 diabetes. Lifestyle changes and metformin are
initiated.

Symptoms

The patient's symptoms—fatigue, polyuria, and elevated blood glucose

levels—are classic manifestations of uncontrolled diabetes. Fatigue often results from
the body's inability to use glucose with high efficiency for energy, causing a feeling of
tiredness and weakness. Polyuria occurs as the kidneys attempt to excrete excess
glucose through the urine, resulting in increased urination frequency. Elevated blood
glucose levels, as established on subsequent testing, are the hallmark of diabetes.

Diagnosis

Some tests would be conducted to make a diagnosis for diabetes. The blood
glucose test serves as the basis of all investigations into assessing a patient's blood
sugar level. In general, a fasting level of less than 100 mg/dL is considered normal. The
A1C test estimates one's average blood sugar levels over the last 2 to 3 months and
therefore provides a different view of glycemic control in that a normal A1C level is
typically below 5.7%. This is the oral glucose tolerance test assessing the ability of
the body to handle glucose after one has consumed a sugary drink. A normal glucose
tolerance test would mean that blood sugar levels come back to normal within 2 hours
of ingestion.
Treatment

Generally, a treatment plan for type 2 diabetes is multifaceted. Key lifestyle

changes to improve insulin sensitivity and health are achieved through diet, exercise,
and control of weight. Patients should reduce their intake of refined carbohydrates and
sugary foods and consume more fruits, vegetables, and whole grains. This helps in
improving insulin sensitivity and weight management. With weight loss, the patients with
type 2 diabetes show a good improvement in glycemic control. Drugs such as
metformin can be used; they sensitize the body to insulin and reduce hepatic glucose
production. Hence, all of these treatments are likely to create a positive effect on A1C
levels, weight, and the risk of complications due to diabetes.

Enzymes

Type 2 diabetes is a family of metabolic disorders that involve impaired glucose

tolerance and insulin resistance. The pancreas produces a hormone called insulin,
which helps in regulating the blood glucose level by facilitating uptake by cells. In type 2
diabetes, a cell begins reacting to insulin as if it is not available; this translates into
elevated levels of blood glucose.

Some of the key enzymes implicated in glucose metabolism are glucokinase

and hexokinase. Dysfunctions of these enzymes can actually impede glucose uptake,
thus elevating the generation of glucose in the liver and even encouraging type 2
diabetes. The overall effect of insulin resistance in combination with enzyme dysfunction
leads to high blood sugar, which causes many other symptoms, including fatigue,
polyuria, and increased blood glucose.
Complications

Untreated enzyme dysfunction of glucokinase and hexokinase in diabetes

mellitus can lead to a variety of grave complications.

Direct effects of enzyme dysfunction include hyperglycemia. Altered

glucokinase activity in the liver reduces glucose phosphorylation, thus facilitating an
increase in hepatic glucose production. Malfunction of hexokinase activity in peripheral
tissues diminishes glucose uptake, thus elevating blood glucose levels. Untreated
hyperglycemia can lead to:

● Diabetic ketoacidosis (DKA): It is a life-threatening condition of severe

hyperglycemia with dehydration and metabolic acidosis.
● Hyperosmolar hyperglycemic state (HHS): A nonketotic state of
hyperglycemia marked by the presence of severe hyperglycemia, dehydration,
and electrolyte disturbance.
● Neuropathy: It may cause numbness, tingling, and pain in the limbs.
Kidney damage is one of the causes of chronic kidney diseases as well as
failure.
● Retinopathy: It might cause blindness resulting from damage to the retina.
● Cardiovascular disease: This is also the cause of a heart attack or stroke.
● Increased susceptibility to infection: On account of impaired immunity.

The second complication is hypoglycemia. This is known to occur in a lesser

number of type 2 patients compared to type 1. The causes of this condition include low
blood sugar, dizziness, sweating, shakiness, confusion, seizures, loss of
consciousness, coma, and the list goes on.

Uncontrolled diabetes can also result in pancreatic dysfunction. Hyperglycemia

can damage pancreatic function, which may affect the activity of digestive amylase and
lipase enzymes. This results in the presence of gastric symptoms such as nausea,
vomiting, or diarrhea.
Other complications resulting from undiagnosed diabetes include the following:

● Ulcers of the foot: a condition with a higher tendency to develop due to nerve
damage and alteration in blood flow.
● Amputation: In the worst cases, foot ulcers can cause infection, which may lead
to amputation.
● Erectile dysfunction: in males
● Psychological condition: increased susceptibility to mental disorders.

It must be noted that these complications of diabetes can be avoided or delayed

by early detection and proper care. Patients suffering from diabetes need to monitor
their blood sugar content along with proper treatment.
 CELIAC DISEASE

Case Study

A 25-year-old female with chronic diarrhea and weight loss is diagnosed with
celiac disease after positive serology and intestinal biopsy. A gluten-free diet resolves
her symptoms.

Symptoms

The presenting symptoms in this case are chronic diarrhea and weight loss,
both of which are usual signs of celiac disease. Ongoing loose stool most likely due to
malabsorption, the inability to absorb nutrients properly will lead to a decrease in body
weight.

Diagnosis

Two key diagnostic test were performed:

1. Serology (Blood Tests)

a. Anti-tissue transglutaminase antibodies (tTG-IgA) - a common and highly
specific test for celiac disease. A positive result indicates an immune
reaction to gluten.
b. Anti-endomysial antibodies (EMA) - another sensitive test for celiac
disease
2. Intestinal Biopsy

A biopsy of the small intestine revealed characteristic damage (villous atrophy)

which is typical of celiac disease. The villi are flattened, reducing the surface
area for nutrient absorption.

The Gold Standard for the diagnosis of Celiac disease is the combination of
biopsy and blood test.
Treatment

The primary treatment is a gluten-free diet. This means the patient must avoid
all foods containing gluten, which is found in wheat, barley, and rye. This dietary change
typically leads to the resolution of symptoms, as it allows the intestinal lining to heal.
Chronic diarrhea and weight loss should resolve as the intestine heals. The intestinal
villi will gradually recover, leading to improved nutrient absorption and overall health.

Enzymes

The enzyme dysfunction related to celiac disease involves tissue

transglutaminase (TTG). This enzyme is involved in the breakdown of gluten. In
individuals with celiac disease, the immune system mistakenly reacts to TTG, causing
damage to the small intestine. Its normal function is to help in the repair and remodeling
of tissues by modifying proteins through a process called deamidation or cross-linking.
To people with celiac disease tTG modifies gluten peptides into a form that triggers an
immune response. In celiac disease, the immune system mistakenly targets tTG and
gluten, leading to inflammation and damage to the intestinal lining and producing
anti-tTG antibodies. It's important to note that celiac disease is not caused by a
deficiency of tTG. Instead, it’s an autoimmune reaction where the body mistakenly
targets this normal enzyme after gluten is consumed.
Complications

If celiac disease is left untreated or the enzyme dysfunction continues, the

following complications may arise:

● Malabsorption syndromes: Persistent nutrient deficiencies (iron, calcium,

vitamins) can lead to anemia, osteoporosis, and growth problems.
● Increased risk of other autoimmune diseases: Such as Type 1 diabetes and
thyroid disease (insulin deficiency)
● Intestinal complications: Chronic inflammation can lead to small bowel cancers
(e.g., intestinal lymphoma).
● Neurological issues: Gluten ataxia, neuropathy, or cognitive impairment due to
prolonged inflammation and malnutrition (vitamin b deficiency).
 CHRONIC KIDNEY DISEASE

Case Study

A 70-year-old male with hypertension presents with fatigue and elevated

creatinine levels. His kidney function is compromised, requiring dietary modifications
and eventual dialysis.

Symptoms

● Fatigue
● Elevated Creatinine Levels

Diagnosis

As an initial step toward diagnosing kidney disease, the doctor will ask about
personal and family history. Among other things, the doctor may inquire whether you
have been diagnosed with high blood pressure, if you have used a medicine that may
impair kidney function, if you have noticed changes in your urine habits, and if you have
family members with kidney disease.

Next, the doctor will undertake a physical exam to look for evidence of heart or
blood vessel abnormalities, as well as a neurological assessment.

Certain tests and treatments may be required to diagnose kidney disease and
determine the severity of the disease (stage). Tests may include:

● Blood tests - Kidney function tests measure the levels of waste products in your
blood, such as creatinine and urea.
● Urine tests - Analyzing a urine sample can reveal discrepancies that indicate
chronic kidney failure and aid in the diagnosis of chronic kidney disease.
● Imaging tests - the doctor may use ultrasound to check the shape and size of
the kidneys. Other imaging tests may be utilized in some instances.
 ● Removing a sample of kidney tissue for testing - The doctor may propose a
kidney biopsy, which includes taking a sample of kidney tissue. Kidney biopsy is
often performed under local anesthetic using a long, thin needle injected through
your skin and into your kidney. A biopsy sample is sent to a lab for testing to
discover the cause of your kidney disease.

Treatment

● Dietary Modifications - Chronic kidney disease (CKD) may necessitate dietary

adjustments. These modifications may include restricting fluids, eating a
low-protein diet, reducing salt, potassium, phosphorus, and other electrolytes,
and consuming enough calories if you are losing weight.
● Dialysis - Dialysis eliminates waste products and excess fluid from your blood
when your kidneys are no longer able to do so. In hemodialysis, a machine
removes waste and extra fluids from your blood.

Peritoneal dialysis involves inserting a tiny tube into the abdomen and filling it
with a dialysis solution to absorb waste and excess fluids. After a while, the
dialysis fluid drains from your body, removing the waste with it.

Enzymes

● Aminotransferases - In some patients who suffer from CKD, the high levels of
aminotransferase activity may indicate liver disease or damage to muscle mass.
Though the specific reasons may differ slightly, there is always a necessity to
seek a health care professional for attention and management. The meaning of
an increase in aminotransferase levels in CKD in general, depends on the
specific patient case and the degree of severity of the disease. If CKD is in a
patient where aminotransferase enzymes are above normal, then the patient
should be cautious.
● Alkaline Phosphatase - Raised levels of alkaline phosphatase (ALP) in patients
with chronic kidney disease (CKD) may be a clue to renal osteodystrophy that is
secondary to long standing CKD, or may be associated with primary
hyperparathyroidism. The elevations of ALP can be of many causes and in this
case the amount of renal parenchyma left also has a bearing on the severity of
the condition. Even raised levels of ALP do not always imply the presence of
active liver cell damage. Thus any CKD patient with available data supporting
aged ALP levels, should contact his or her physician for further analysis and
treatment
● Gamma-Glutamate Dehydrogenase - In patients with chronic kidney disease,
elevated GGT levels can be indicative of liver injury or other diseases. However,
the specific function of GGT in CKD remains undefined, research has correlated
raised GGT levels with the evolution and aggravation of chronic kidney disease.
GGT is an enzyme most abundant in the liver but is also contained in other
tissues including kidneys and pancreas. Alcohol intake and certain drugs may
also alter GGT levels. In case of CKD, raised GGT levels should prompt patients
to seek medical help for accurate assessment and treatment.
Complications

When your kidneys aren't performing properly, it might cause complications in

other parts of your body. It includes the following:

● Anemia - Anemia occurs when the kidneys do not produce enough

erythropoietin. This inhibits their ability to produce red blood cells.
● Bone weakness - CKD can cause low calcium and excessive phosphorus levels
(hyperphosphatemia), weakening the bones. This raises the risk of bone fracture.
● Fluid retention - it occurs when your body holds on to extra fluids.
● Gout - Gout is a kind of arthritis characterized by the accumulation of uric acid in
the joints. The kidneys are typically responsible for filtering uric acid from the
body.
● Heart disease - When your kidneys are not functioning properly, they are unable
to adequately filter waste from your blood. This causes an increase in fluid in
your circulation, which may cause high blood pressure and heart damage.
● Hypertension - This occurs when the flow of blood rushing through your blood
arteries is very high. Hypertension can affect renal function, resulting in fluid
retention and hypertension.
● Hyperkalemia - If your kidneys are unable to filter out excess potassium, it might
accumulate in your blood. Hyperkalemia is a rapid surge in potassium levels that
can impair cardiac function.
● Metabolic acidosis - When there is too much acid in your physiological fluids
that your kidneys do not filter out, it disrupts your blood's pH equilibrium.
● Uremia - Uremia is an accumulation of waste products in the blood. It is a sign of
significant renal damage and usually appears in the later stages of kidney failure.
● Weakened immune system - Chronic kidney disease may increase your
susceptibility to infection and illness.
 LEAD POISONING

Case Study

A 6-year-old child presents with developmental delays and elevated blood lead
levels. Chelation therapy is initiated, and follow-up reveals improvement in
developmental milestones.

Symptoms

Lead poisoning often develops in a gradual and unnoticed manner, with

individuals showing no clear symptoms despite elevated blood lead levels. This
asymptomatic stage can persist as the body continues to accumulate lead over time. It
is only when a significant level of lead has built up that clinical symptoms begin to
appear, indicating the toxic impact on various bodily systems.

Lead poisoning symptoms in children

● Developmental delay
● Learning difficulties
● Irritability
● Loss of appetite
● Weight loss
● Sluggishness and fatigue
● Abdominal pain
● Vomiting
● Constipation
● Hearing loss
● Seizures
● Eating things, such as paint chips, that aren't food (pica)
Lead poisoning symptoms in newborns

● Be born prematurely
● Have lower birth weight
● Have slowed growth

Lead poisoning symptoms in adults

● High blood pressure

● Joint and muscle pain
● Difficulties with memory or concentration
● Headache
● Abdominal pain
● Mood disorders
● Reduced sperm count and abnormal sperm
● Miscarriage, stillbirth or premature birth in pregnant women

Diagnosis

In cases where lead exposure is suspected, it is essential to perform a blood

lead level (BLL) test to determine both the presence and concentration of lead in the
bloodstream. Detection of lead exposure often relies on the identification of elevated
BLLs, which are typically reported by primary healthcare providers. Unfortunately, lead
exposure is frequently overlooked until these elevated levels are recognized,
highlighting the importance of routine screening and timely diagnostic measures to
ensure early intervention and reduce potential health risks.
Treatment

Chelation therapy involves the use of specific medications designed to bind to

lead present in the bloodstream, facilitating its removal from the body through the
excretory system. This treatment is crucial for reducing the body’s lead burden,
particularly in individuals with significantly elevated blood lead levels.

Environmental remediation is a crucial aspect of managing lead poisoning, as

it involves identifying and addressing the sources of lead exposure. This process
may include evaluating and removing lead-based paint, contaminated soil, or
other environmental risks found in homes and communities to reduce the
likelihood of continued exposure.

The anticipated outcomes of these interventions are generally positive if initiated

promptly. Early treatment, combined with the elimination of lead exposure, can
lead to noticeable improvements in developmental delays and help avert
additional neurological harm. However, it is important to acknowledge that some
of the damage caused by lead poisoning, particularly in cases of prolonged
exposure, may be permanent and resistant to treatment.

Enzymes

Lead toxicity disrupts the activity of several key enzymes essential for various
cellular processes, such as neurotransmitter synthesis, energy production, and protein
synthesis, leading to a range of harmful effects. Among the enzymes most affected are:

1. δ-Aminolevulinic Acid Dehydratase (ALAD), which plays a crucial role in the

heme biosynthesis pathway necessary for hemoglobin production. Lead inhibits
ALAD, causing a buildup of δ-aminolevulinic acid, a neurotoxic substance that
can contribute to neurological damage.
 2. Ferrochelatase, another enzyme in the heme production process, is also
inhibited by lead exposure. This inhibition prevents the incorporation of iron into
protoporphyrin, resulting in impaired heme synthesis and leading to anemia.

3. Calcium-dependent enzymes, such as protein kinase C (PKC), are affected

because lead can mimic or compete with calcium ions. These enzymes are
important for neuronal signaling and cellular functions. Disruption of PKC can
impair neurotransmitter release and other essential activities within cells.

4. Na+/K+-ATPase, which is involved in maintaining the cell's membrane potential

and regulating energy use, is also impacted by lead. Its inhibition can lead to
compromised nerve transmission and muscle function.

Complications

Prolonged exposure to even minimal concentrations of lead can lead to severe

health implications, especially in children who are still in their developmental stages.
The brain is the organ that is most susceptible to lead's harmful effects, as it can sustain
permanent damage. Additionally, elevated levels of lead exposure have been
associated with dysfunction in the kidneys and nervous system in both pediatric and
adult populations. In severe instances, acute lead poisoning may result in critical health
crises, including seizures, loss of consciousness, and potentially fatal outcomes.
 CHOLESTASIS

Case Study

A 50-year-old male with jaundice and elevated alkaline phosphatase levels is

diagnosed with primary biliary cholangitis. Ursodeoxycholic acid therapy is started,
improving liver function.

Symptoms

Cholestasis refers to a reduction or halt in the flow of bile from the liver. Bile,
which is produced by the liver, is transported to the digestive system via a complex
network of bile ducts. These ducts are categorized into intrahepatic ducts, located within
the liver, and extrahepatic ducts, which extend beyond the liver. Together, these ducts
connect the liver, gallbladder, pancreas, and small intestine, forming the biliary system.
When bile flow is impaired within this system, it adversely impacts the associated
organs and ductal structures. The accumulation of bile leads to irritation of tissues and
disrupts normal organ function that leads to:

Jaundice: An early indicator of liver problems, characterized by a yellowish

discoloration of the skin and the whites of the eyes. It results from the buildup of
bile in the blood, mainly due to high bilirubin levels. The excess bilirubin may also
lead to darker-colored urine.

Pale Stools: Changes in stool color can signal impaired bile flow, as disrupted
bile secretion affects fat digestion. This results in pale or clay-colored stools due
to a lack of bilirubin, which normally gives feces their brown color. Additionally,
these stools may float and have a particularly strong odor.

Pruritus: Pruritus, or skin itching, is a common symptom associated with

cholestasis, caused by the buildup of bile salts in the bloodstream that irritates
peripheral nerves. Unlike other types of itching, it typically occurs without a rash,
and its intensity varies between individuals. Some may experience localized
itching, while others have widespread discomfort.
 Abdominal Pain: Abdominal pain may result from inflammation or pressure on
nearby organs. Inflammation, often due to infections or autoimmune reactions,
causes swelling and increased sensitivity. Additionally, pressure from tumors or
enlarged organs can disrupt normal function, leading to varying degrees of
discomfort based on the cause and its severity.

Nausea and Vomiting: Digestive symptoms can result from disruptions in bile
flow, which may hinder fat absorption and lead to issues like abdominal
discomfort, bloating, and irregular bowel movements. These disturbances can
aggravate gastrointestinal problems and impact overall digestive health.

Fatigue: Chronic fatigue is commonly associated with cholestasis, as the body

struggles to manage the impact of impaired bile flow and its underlying causes.
This condition can lead to toxin buildup and nutrient deficiencies, contributing to
ongoing exhaustion and low energy levels.

Diagnosis

Blood Test - When symptoms of cholestasis are observed, the healthcare

provider will initiate the diagnostic process with blood tests. These tests will
evaluate levels of bilirubin and bile salts, which tend to be elevated in cases of
cholestasis. Furthermore, they may check cholesterol levels and specific liver
enzymes, such as gamma-glutamyl transferase (GGT) and alkaline phosphatase
(ALP).The results from these test help in determination the best course of
treatment.
 Imaging Tests - If blood tests indicate potential issues, your healthcare provider
will conduct imaging tests to examine your biliary system. They may start with
noninvasive procedures, such as an abdominal ultrasound or CT scan, which can
reveal physical blockages in the bile ducts and inflammation in surrounding
organs. These tests help pinpoint the source of the problem. Depending on the
findings, more detailed imaging may be necessary. A HIDA scan, which involves
injecting a radiotracer into a vein, allows for tracking bile flow through the biliary
system. Additionally, magnetic resonance imaging (MRI) may be utilized for a
closer look at the biliary structures.

Exploratory Exams - Some underlying causes of cholestasis may require direct

examination to diagnose and treat. Your healthcare provider might need to
inspect your bile ducts or perform a liver biopsy to analyze liver tissue.
Endoscopic procedures, which utilize an endoscope—a small camera attached to
a long tube—allow for internal visualization. During an endoscopic retrograde
cholangiopancreatography (ERCP), healthcare providers can identify and
address issues in the bile ducts using the endoscope.

Treatment

Ursodeoxycholic Acid (UDCA): Ursodeoxycholic acid is a bile acid that is

frequently prescribed for the treatment of primary biliary cholangitis (PBC). It
works by reducing the levels of toxic bile acids in the liver, thereby promoting
better liver function and slowing disease progression. Research has shown that
UDCA can improve liver biochemistry and delay the need for liver transplantation
in some patients.

Anti-Inflammatory Medications: Anti-inflammatory drugs can be prescribed to

help manage symptoms associated with cholestasis, particularly pruritus
(itching). These medications can provide relief by reducing inflammation and
modulating the body's response to itching, enhancing the overall quality of life for
affected individuals.
 Liver Transplantation: In cases of severe liver dysfunction or when other
treatment options have failed, liver transplantation may become necessary. This
surgical procedure involves replacing a diseased liver with a healthy donor liver.
It is considered a life-saving option for patients with end-stage liver disease,
including those suffering from complications of cholestasis.

Enzymes

Alkaline Phosphatase: Alkaline phosphatase is an enzyme predominantly

located in the bile ducts and liver. In cases of cholestasis, elevated levels of
alkaline phosphatase are indicative of damage to these tissues, as the enzyme is
released into the bloodstream when there is obstruction or injury within the biliary
system. This elevation can serve as a crucial biomarker in diagnosing cholestatic
liver disease.

Gamma-Glutamyl Transferase (GGT): Gamma-glutamyl transferase is an

enzyme located in the liver and bile ducts. When GGT levels in the blood rise, it
often indicates bile duct damage. In cases of cholestasis, the impairment of this
enzyme can result in the accumulation of bile acids in the bloodstream, causing
various symptoms, including jaundice, significant itching, fatigue, and abdominal
pain.

5' Nucleotidase: An enzyme associated with liver function, and its levels can
also be elevated in cholestatic conditions. While it is less commonly referenced
than alkaline phosphatase or GGT, its presence in conjunction with these other
enzymes can provide further insight into the functional status of the liver and the
biliary system, aiding in the assessment of cholestatic disorders. Elevated 5'
nucleotidase levels may indicate hepatobiliary disease and help differentiate the
causes of liver dysfunction.
Complications

Liver Cirrhosis: Liver cirrhosis is a progressive condition characterized by the

development of scar tissue in the liver due to chronic injury or inflammation. This
scarring disrupts the normal structure and function of the liver, impairing its ability
to process nutrients, produce bile, and detoxify harmful substances. Over time,
cirrhosis can lead to significant complications, including liver failure.

Liver Failure: Liver failure occurs when the liver loses its ability to perform
essential functions effectively. This condition can result from various factors,
including chronic liver diseases, toxins, or infections. As liver function declines,
patients may experience symptoms such as jaundice, confusion, and severe
abdominal swelling. Liver failure can be acute or chronic, and it often requires
urgent medical intervention.

Portal Hypertension: Portal hypertension occurs when there is increased blood

pressure in the portal vein, responsible for transporting blood from the intestines
to the liver. This condition is commonly caused by liver cirrhosis or other liver
diseases that obstruct blood flow. Consequently, portal hypertension can result in
serious complications, including the formation of varices (enlarged veins) in the
esophagus or stomach, which can rupture and lead to life-threatening bleeding.

Malabsorption: Malabsorption is a condition characterized by the body’s inability

to effectively absorb essential nutrients from food due to various gastrointestinal
disorders. This dysfunction can lead to deficiencies in vitamins, minerals, and
other important nutrients, resulting in symptoms such as weight loss, diarrhea,
and fatigue. Contributing factors to malabsorption include damage to the
intestinal lining, insufficient digestive enzymes, and conditions that disrupt the
absorption process.
Gallstones: Gallstones are solid formations that can develop in the gallbladder,
primarily composed of cholesterol or bilirubin. These hardened deposits can vary
in size and may produce symptoms if they block the bile ducts, resulting in pain,
nausea, or inflammation of the gallbladder (cholecystitis). In certain instances,
gallstones may not cause any symptoms and require no intervention; however, in
other cases, surgical removal may be necessary.
 THYROID DISORDERS

Case Study

A 35-year-old female presents with weight gain and fatigue. Diagnosis of

hypothyroidism is confirmed, and levothyroxine is prescribed, leading to improved
energy levels and weight loss.

Symptoms

● Fatigue and Weakness: One of the most prevalent symptoms. People with
hypothyroidism frequently feel fatigued and sluggish, even after getting enough
rest.
● Weight Gain: Unexplained increase in weight occurs when the body's
metabolism slows owing to low thyroid hormone levels. Individuals may feel chilly
more frequently, even in warm circumstances, due to impaired thermogenesis.
● Dry Skin and Hair: Hypothyroidism frequently results in dry, flaky skin and brittle
hair that breaks easily.
● Constipation: A slowed digestive process, which is linked to decreased thyroid
function, can induce persistent constipation.
● Depression and Memory Issues: Cognitive impairment, memory issues, and
sadness are frequently encountered in patients with low thyroid hormone levels.
● Bradycardia: Sluggish heart rate (less than 60 beats per minute), which can
occur.
● Muscle Cramps and Joint Pain: Musculoskeletal issues like cramping, pains,
and stiffness are prevalent.
● Menstrual irregularities: Women with hypothyroidism may have heavier or
irregular menstrual cycles. Some people may have facial puffiness and
hoarseness as a result of fluid retention.
● Elevated Blood Cholesterol Levels: Reduced metabolism can cause high
cholesterol levels, increasing the risk of cardiovascular disease.
 ● Goiter: Enlarged thyroid gland that develops as a result of insufficient hormone
synthesis.

Diagnosis

Physical Exam: Diagnosis Monitoring: Once diagnosed and treatment begins,

patients are monitored regularly with TSH and T4 tests to ensure the appropriate
dosage of thyroid hormone replacement therapy.

Thyroxine (T4) Test: Determines the level of thyroxine (T4), the major hormone
produced by the thyroid. Low T4 values suggest hypothyroidism.

Triiodothyronine (T3) Test: Although T3 levels may remain normal in early

hypothyroidism, this test may be requested to offer a more complete thyroid
function profile, particularly when detecting hyperthyroidism.

Radioactive Iodine Uptake Test (RAIU): In some circumstances, especially

when determining the cause of hypothyroidism, doctors may utilize a RAIU test.
This assesses how well the thyroid absorbs iodine, which is required for hormone
synthesis.

Diagnosis Monitoring: Once diagnosed and treated, patients are evaluated on

a regular basis using TSH and T4 tests to ensure that the thyroid hormone
replacement therapy dosage is suitable.
Treatment

Levothyroxine (Synthetic Thyroxine - T4): artificial version of the hormone

thyroxine (T4), which is naturally produced by the thyroid gland. It compensates
for thyroid hormone underproduction, restoring metabolic processes to normal.

Liothyronine (Synthetic Triiodothyronine - T3): synthesized form of

triiodothyronine (T3), which is an active thyroid hormone. It is less usually
recommended, however it can be used in conjunction with levothyroxine if
symptoms continue despite normal T4 and TSH levels.

Combination therapy (T4 and T3): includes taking both levothyroxine and
liothyronine. Recommended when patients do not react completely to T4
treatment alone.

Enzymes

Thyroid Peroxidase (TPO): This enzyme iodinates tyrosine residues in

thyroglobulin, resulting in the production of thyroid hormones T3
(triiodothyronine) and T4 (thyroxine). A malfunction or autoimmune attack on
TPO might impede hormone synthesis and contribute to hypothyroidism.

Deiodinase 1 and Deiodinase 2: convert T4 into the more active T3. D2 is very
vital for the brain and pituitary gland. Genetic abnormalities affecting D2 might
hinder the conversion, resulting in low T3 levels despite normal or high T4 levels.
Even if TSH levels are normal, this can cause hypothyroid symptoms.

Deiodinase 3: inactivates T3, and overactivity can result in low levels of active
thyroid hormone, aggravating hypothyroidism.
Complications

When hypothyroidism goes untreated, it can cause a variety of complications that

impact many systems in the body. Cardiovascular disorders such as high cholesterol
and heart failure are widespread because thyroid hormones influence cholesterol
metabolism and heart function. Severe hypothyroidism can cause myxedema coma, a
life-threatening syndrome characterized by profound lethargy, coldness, and low blood
pressure. Cognitive impairment, depression, and, in extreme situations, dementia can
have an impact on mental health. Hypothyroidism can lead to infertility, menstruation
abnormalities in women, and pregnancy difficulties such as miscarriage and fetal
developmental issues. Long-term hypothyroidism can also cause peripheral neuropathy,
joint discomfort, and carpal tunnel syndrome. Furthermore, in children, untreated
hypothyroidism can cause developmental delays and growth difficulties.
 GASTROESOPHAGEAL REFLUX DISEASE (GERD)

Case Study

A 40-year-old male with chronic heartburn and regurgitation experiences enzyme

dysfunction in the esophagus. Treatment includes proton pump inhibitors to reduce acid
production and improve symptoms.

Symptoms

Gastroesophageal reflux disease (GERD) is a condition characterized by the

reflux of stomach contents into the esophagus. This reflux can cause a variety of
symptoms, including heartburn, regurgitation, chest pain, dysphagia, nausea, vomiting,
chronic cough, hoarseness, and laryngitis. The severity and frequency of these
symptoms can vary among individuals.

Diagnosis

Various diagnostic tests can be conducted to verify a diagnosis of GERD and

evaluate the severity of any harm to the esophagus.

The tests might consist of:

● Upper endoscopy. An upper endoscopy uses a tiny camera on the end of a

flexible tube to visually examine the upper digestive system. The camera helps
provide a view of the inside of the esophagus and stomach.
● Ambulatory acid (pH) probe test. A monitor is placed in the esophagus to
identify when, and for how long, stomach acid regurgitates there. The monitor
connects to a small computer that's worn around the waist or with a strap over
the shoulder.
 ● X-ray of the upper digestive system. X-rays are taken after drinking a chalky
liquid that coats and fills the inside lining of the digestive tract. The coating allows
a healthcare professional to see a silhouette of the esophagus and stomach. This
is particularly useful for people who are having trouble swallowing.

Treatment

The treatment that is used to treat gastroesophageal reflux disease is proton

pump inhibitors; it is used to relieve symptoms of acid reflux. They function primarily by
inhibiting the production of acid in the stomach. This serves to reduce the amount of
acid that flows back into the esophagus, thereby ameliorating symptoms like heartburn,
regurgitation, and chest ache.

Enzymes

Lower esophageal sphincter (LES) whose malfunction is the most commonly

associated with GERD. The LES is a sphincter that is composed of circular muscle
fibers and prevents stomach contents from moving into the esophagus. In patients with
GERD, the sphincter may weaken or inappropriately relax so that gastric content may
reflux into the esophagus.

While enzyme dysfunction in the stomach itself is not a direct cause of GERD,
the increased exposure of the esophageal lining to stomach acid and digestive enzymes
can lead to inflammation, damage, and other complications. This can result in
symptoms such as heartburn, regurgitation, chest pain, and difficulty swallowing.
 Specifically, with regards to GERD, the enzymes participating in the process may
contribute to symptoms as mentioned below.

● Pepsin: This is one of the enzymes that the stomach secretes with the function
of protein breakdown. Once this pepsin-containing secretory substance is
refluxed to the esophagus, it has a potential to trigger the inflammatory process
and thus cause heartburn or chest pains due to repeatedly instigating the
esophageal mucosa.
● Gastric lipase: Another fat-destroying enzyme synthesized from gastric tissues.
The secretion of such molecules could also be one of the causes of inflammatory
processes upon the esophagus contributing to incidences of GERD.

Complications

If GERD enzyme deficiency or its toxicity is ignored, progressive chronic

complications could follow. One of them is esophagitis which occurs when the
esophagus gets swollen and is coated with the acid of the stomach for a very long
period. It can lead to pain, swallowing problems and bleeding. If this problem is not dealt
with, esophagitis can further extend to Barrett's esophagus, a stage preceding cancer
provocation which increases chances of development of cancer in the esophagus.

Esophagitis is the most prevalent form of acid reflux disease erosion of the
esophagus that occurs as a complication to GERD. Barrett's esophagus may also
develop in some people with persistent diseases which synchronize Barrett's
esophagus and in most cases leads to esophageal cancer. Furthermore, esophageal
stricture is another complication that evolves from untreated GERD esophageal stricture
which means that the esophagus becomes constricted or narrow due to development of
scar tissue inflamed by acid-reflux disease. This narrowing may require dilating
measures to alleviate the difficulty in swallowing. Apart from these injuries, there is a
possibility of stomach contents being aspirated into lungs causing aspiration
pneumonia.
 CHRONIC STRESS

Case Study

A 40-year-old female experiencing chronic stress presents with weight gain and
hypertension. Hormonal imbalances affect metabolic enzymes. Stress management
techniques and lifestyle changes are implemented to improve overall health.

Symptoms

Chronic stress can lead to a variety of physical, emotional, and behavioral

symptoms. Common symptoms include:

1. Physical Symptoms:
○ Headaches
○ Fatigue
○ Muscle tension or pain
○ Digestive issues
○ Sleep disturbances
○ Weakened immune response
2. Emotional Symptoms:
○ Anxiety or feelings of overwhelm
○ Depression or persistent sadness
○ Irritability or mood swings
○ Difficulty concentrating or making decisions
○ Feelings of helplessness or hopelessness
3. Behavioral Symptoms:
○ Withdrawal from social activities
○ Changes in appetite
○ Increased use of alcohol, tobacco, or drugs
○ Neglecting responsibilities or procrastination
Diagnosis

A comprehensive evaluation is often performed by a medical professional to

identify chronic stress. A clinical interview is often the first step in the process, during
which the physician asks questions about your symptoms, duration, and impact on daily
functioning. This includes questions about physical symptoms, mental health, and
behavioral changes. A review of your medical history, including any current medications,
health issues, and lifestyle choices, might help determine the root reasons of your
stress. A physical examination might also be carried out to rule out the possibility of any
other medical conditions causing comparable symptoms. Standardized assessments or
questionnaires may also be used to gauge stress levels and how they affect mental
health. The healthcare professional will evaluate the presence of both mental and
physical symptoms, such as headaches and fatigue.

Treatment

As a rule, continual stress management consists of using tablets and making use
of diverse healing techniques with viable way of life modification being the last hotel. It’s
a powerful form of remedy, which permits you to learn how to dispose of the terrible
questioning styles. Managing continual strain calls for incorporating wholesome habits
consisting of exercise, eating properly, and getting enough sleep, as well as engaging in
comforting practices like yoga, meditation, or sports concerning deep respiratory.
Developing an excellent circle of interactions can help in presenting reassurance and
reduce the degrees of isolation while a well bought control will lessen the impact of
pressure temporally. In positive conditions, medicinal drugs may be blanketed in a
remedy plan for the purposes of alleviating unique symptoms and symptoms.
Enzymes

Prolonged strain may have a full-size effect on the frame's metabolism and
enzymes. Stress reasons the manufacturing of the hormone cortisol, but chronic
excessive tiers may harm metabolic overall performance. Extended interest by using
cyclooxygenase (COX) enzymes also can cause infection; on the other hand, nitric
oxide synthase (NOS) also can alter nitric oxide technology, that may affect
immunological responses and blood vessel dilatation. High ranges of Lactate
Dehydrogenase (LDH) may additionally imply tissue strain, and depletion of Superoxide
Dismutase (SOD), which gives safety against oxidative strain, can also bring about
extra damage. Catechol-O-Methyltransferase (COMT), which regulates pressure
hormone responses, is likewise impacted by persistent pressure.
Complications

Chronic strain can cause a variety of main consequences to both physical and
mental health. It raises the hazard of cardiovascular problems which include high blood
strain, heart disease, and stroke due to higher cortisol ranges and coronary heart rate.
Prolonged stress also can make contributions to mental health illnesses like tension and
despair, in addition to exacerbating pre-existing conditions. Stress can motivate
gastrointestinal issues such as irritable bowel syndrome (IBS), indigestion, and ulcers
as it affects intestine motility and infection. Furthermore, continual stress impairs the
immune system, making people extra liable to ailments. It can cause weight
fluctuations, either via awful eating habits or a lower appetite, as well as sleep
disruptions consisting of insomnia, that could have a power on popular health.
Persistent pressure often creates muscle tightness. Persistent stress creates muscle
anxiety and ache, which can lead to anxiety complications and migraines. Chronic
pressure can impair memory, attention, and selection-making capacity. Some human
beings might also use alcohol, tobacco, or drugs as coping strategies, leading to
addiction and different fitness issues. Finally, pressure can impair personal
relationships, inflicting extra war, verbal exchange problems, and social disengagement.
Managing chronic strain is critical for heading off those troubles and improving typical
best of life.
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