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gout and inborn error of metabolism

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15 views

gout and inborn error of metabolism

Uploaded by

Aimen Sarwar
Copyright
© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
Available Formats
Download as PPTX, PDF, TXT or read online on Scribd
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GOUT

By Areej Munir
GOU
T
• Gout is a type of inflammatory arthritis that causes pain and swelling
in your joints, usually as flares that last for a week or two, and then
resolve. Gout flares often begin in your big toe or a lower limb. Gout
happens when high levels of urate build up in your body over a long
period of time, which can then form needle-shaped crystals in and
around the joint. This leads to inflammation and arthritis of the joint.
When the body makes too much urate, or removes too little, urate
levels build up in the body. However, many people with high levels of
serum urate will not develop gout.
• Gout is a common and complex form of arthritis that can affect
anyone. It’s characterized by sudden, severe attacks of pain,
swelling, redness and tenderness in one or more joints, most often in
the big toes
An attack of gout can occur suddenly, often waking you up in the
middle of the night with the sensation that your big toe is on fire.
The affected joint is hot, swollen and so tender that even the weight
of the bedsheet on it may seem intolerable.
SYMPTOM
S
• Intense joint pain. Gout usually affects the big toe, but it can occur in any
joint. Other commonly affected joints include the ankles, knees, elbows,
wrists and fingers. The pain is likely to be most severe within the first four
to 12 hours after it begins.
Lingering discomfort. After the most severe pain subsides, some joint
discomfort may last from a few days to a few weeks. Later attacks are likely
to last longer and affect more joints.
Inflammation and redness. The affected joint or joints become swollen,
tender, warm and red. Limited range of motion. As gout progresses, you
may not be able to move your joints normally
CAUSE
S
• A buildup of excess uric acid in your body causes gout. Your body
naturally makes uric acid when it breaks down chemicals called
purines found in certain foods and drinks. Your kidneys usually filter
uric acid out of your blood, and then it leaves your body when you
pee. your body makes too much uric acid, or your kidneys don’t
remove it from your blood fast enough. When your body has high
levels of uric acid (hyperuricemia), uric acid crystals can build up and
settle into your joints. The sharp crystals clump together and cause
sudden episodes of pain, swelling and other symptoms. Having
temporarily high uric acid levels doesn’t mean you’ll definitely develop
gout. Many people with hyperuricemia never get gout.
GOUT RISK
FACTORS
• Gout can affect anyone. People assigned male at birth (AMAB) are three times
more likely to develop gout. People assigned female at birth (AFAB) usually don’t
experience gout until after menopause. People with certain health conditions are
more likely to develop gout, including:
Blood cancer
Overweight or
obesity.
Congestive heart
failure. Diabetes.
Hypertension (high blood
pressure). Kidney disease.
DIETARY
MANAGEMENT
• Best Foods for a Gout Diet
You’ll want to go for low-purine options like:
Low-fat and non-dairy- fat products, such as yogurt
and skim milk Fresh fruits and vegetables
Nuts, peanut butter, and grains
FOODS TO AVOID IF YOU HAVE
GOUT
• You should stay away from these types of food:

Beer and grain liquors (like vodka and


whiskey) Red meat, lamb, and pork
Organ meats, such as liver, kidneys, and glandular meats like the thymus
or pancreas (you may hear them called sweetbreads)
Seafood, especially shellfish like shrimp, lobster, mussels, anchovies, and
sardines
High-fructose products like soda and some juices, cereal, ice cream, candy,
and fast food
BEST FOODS FOR A GOUT
DIET
• Low-fat and nondairy- fat products, such as yogurt
and skim milk Fresh fruits and vegetables
Nuts, peanut butter, and
grains Fat and oil
Potatoes, rice, bread,
and pasta Eggs (in
moderation)
Meats like fish, chicken, and red meat are fine in moderation (around 4 to 6 ounces
per day). Vegetables: You may see veggies like spinach and asparagus on the
high-purine list, but studies show they don’t raise your risk of gout or gout attacks
GOUT SAMPLE
MENU
• Sample menu
Here’s what you might eat during a typical day
on a gout diet Breakfast
Whole-grain, unsweetened cereal with skim or
low-fat milk 1 cup fresh strawberries
Coffe
e
Wate
r
Lunc
h
Roasted chicken breast slices (2 ounces) on a whole-grain roll with mustard
Mixed green salad with vegetables, 1 tablespoon nuts, and balsamic vinegar
and olive oil dressing Skim or low-fat milk or water
Afternoon snack
1 cup fresh
cherries Water
Dinner
Roasted or steamed green beans
½ to 1 cup whole-grain pasta with olive oil and
lemon pepper Water
Low-fat yogurt
1 cup fresh melon
INBORN ERRORS OF
METABOLISM

• Inborn errors of metabolism are rare genetic (inherited) disorders in


which the body cannot properly turn food into energy. The
disorders are usually caused by defects in specific proteins
(enzymes) that help break down (metabolize) parts of food.

A food product that is not broken down into energy can build up in the
body and cause a wide range of symptoms. Several inborn errors of
metabolism cause developmental delays or other medical problems if
they are not controlled.
TYPES INBORN ERRORS OF
METABOLISM
• There are many different types of inborn errors of
metabolism. A few of them are:
Fructose
intolerance
Galactosemia
Maple syrup urine disease
(MSUD) Phenylketonuria
(PKU)
SYMPTOMS

• Unintended weight loss, or a failure to gain weight and grow in


babies and children. Tiredness and lack of energy.
Hypoglycemia or low blood
sugar. Poor feeding habits.
Stomach problems or vomiting.
High levels of acid or ammonia in
the blood. Abnormal liver function.
Developmental delays in babies and children
NUTRITIONAL MANAGEMENT OF
INBORN ERRORS OF METABOLISM
• Nutritional management of IEM and keeping the underlying disease in
control.
• Role of specific diets and nutrition regimes (e.g., ketogenic diet) in IEM
management.
• Improving adherence to nutritional guidance in IEM patients.
•The relationship between nutritional status and assessment, and
specific IEMs including identifying the best biomarkers for follow-up.
•How we can improve the nutritional composition of specific products for
IEM patients that mean an improvement in the evolution of the disease.
•Regarding the metabolic disease of intermediary metabolism, how we can
identify, prevent, and treat alterations in energy, vitamin, and mineral
intake.
• • The role of multidisciplinary teams in care of IEM patients and the importance of providing families
with adequate nutritional (and disease) education.
• Relevance of the clinical guidelines agreed in management of IEM.
• Role of the microbiota in IEM development, management, and prognosis.
• Relationship between Breastfeeding and IEM.
• Evaluation of neurological development in IEM.
• Assessment and interventions for normal weight-height development in IEM patients.
• Role of early artificial nutritional support (e.g., gastrostomy if necessary) in IEM patients.
• Relevance of physical activity and nutrition at the muscular level in IEM management.
• Interventions in metabolic pathways affected by small molecules.

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