METABOLIC DISORDERS,

GI DISORDERS &
NEUROLOGIC DISORDERS
CHARMAINE DALE B. ROBLES, RN MANC
METABOLIC DISORDERS
(Inborn Errors of Metabolism)
PHENYLKETONURIA
•Autosomal recessive
disorder that results in CNS
damage from toxic levels of
phenylalanine (building
block of protein) in the
blood that can cause
intellectual disability and
serious problems.
PHENYLKETONURIA
ASSESSMENT:
CHILDREN
◦ Digestive problems
◦ Musty odor urine
◦ Mental retardation.
OLDER CHILDREN
◦ Eczema
◦ Hypertonia
◦ Hyperpigmentation of the hair,
skin and irises.
PHENYLKETONURIA
DIAGNOSIS:
◦ Newborn Screening Test
PHENYLKETONURIA
NURSING INTERVENTIONS
1.Screen the newborn for PKU
◦ Infant should have begun formula or breast milk feeding
before specimen collection.
2.Restrict phenylalanine intake: high protein foods.
3.Monitor for physical, mechanical, neurological and intellectual
intelligence
PHENYLKETONURIA
Management
1. Sapropterin (Kuvan) - works by increasing tolerance to phenylalanine
2. Lofenalac - formula that is extremely low in phenylalanine
3. Monitor phenylalanine levels (which should be below 8 mg/dl)
4. Monitor Hemoglobin levels
 MAPLE SYRUP URINE DISEASE
•inherited as an autosomal recessive trait
•genetic disorder characterized by deficiency
of an enzyme complex (branched-chain alpha-
keto acid dehydrogenase)
•defect in metabolism of the amino acids
leucine, isoleucine, and valine, which leads to
cerebral degeneration similar to that
observed in children with PKU
• urine develops the characteristic odor of
maple syrup due to presence of ketoacids
MAPLE SYRUP URINE DISEASE
ASSESSMENT:
◦feeding difficulty
◦loss of the Moro reflex
◦irregular respirations
◦Opisthotonos
◦ generalized muscular
rigidity
◦seizures
MAPLE SYRUP URINE DISEASE
NURSING INTERVENTIONS
•intensive nutritional counseling (low
protein diet)
•Hemodialysis or peritoneal dialysis
may be necessary
 GALACTOSEMIA
•transmitted as an autosomal recessive
trait
•a disorder of carbohydrate metabolism
that is characterized by abnormal
amounts of galactose in the blood
(galactosemia) and in the urine
(galactosuria)
•deficient in the liver enzyme galactose-
1-phosphate uridyltransferase
GALACTOSEMIA
ASSESSMENT:
•Lethargy
•Hypotonia
•Diarrhea
•Vomiting
•liver enlarges as cirrhosis develops.
•Jaundice
•Bilateral cataracts
GALACTOSEMIA
NURSING INTERVENTION:
•placing the infant on a diet free of
galactose or giving the child formula
made with milk substitutes such as
casein hydrolysates ( Nutramigen)
GLYCOGEN STORAGE DISEASE
• a group of genetically
transmitted disorders that involve
altered production and use of
glycogen in the body
•glycogen is deposited normally,
but an enzyme deficiency
prevents retransformation of the
glycogen back to glucose.
GLYCOGEN STORAGE DISEASE
ASSESSMENT:
• Increased in size of the liver
•Child’s growth will be stunted
•Susceptible to periods of hypoglycemia
•Brain damage
•Epistaxis or hemorrhage
•Gout
GLYCOGEN STORAGE DISEASE
NURSING INTERVENTION:
• eat a high carbohydrate diet with snacks
between meals to prevent hypoglycemia.
•continuous glucose nasogastric or
gastrostomy feeding during the night may
be necessary
•Diazoxide (Proglycem), an antihypoglycemic
drug that inhibits insulin release
TAY-SACHS DISEASE
•autosomal recessively inherited disease
•the infant lacks hexosaminidase A, an enzyme necessary for
lipid metabolism
⁻ Without this enzyme, lipid deposits accumulate on nerve cells,
leading to severe cognitive challenge due to deposits on brain
cells, and blindness due to deposits on optic nerve cells
•Ashkenazi Jewish population (Eastern European Jewish
ancestry).
TAY-SACHS DISEASE
ASSESSMENT: •1 year:
•Birth: • Spasticity
• extreme Moro reflex •2 years:
• mild hypotonia • generalized seizures and
blindness
•6 months:
• w/o head control
• ***Most children die of
• Unable to sit up or roll over w/o cachexia (malnutrition) and
support pneumonia by 3 to 5 years of
• cherry-red macula (due to lipid age
deposits)
GASTROINTESTINAL
DISORDERS
 CLEFT LIP/PALATE
•Congenital anomalies that
occur as a result of failure of
soft tissue or bony structure
to fuse during embryonic
development.
•It involves abnormal
opening in the lip and /
palate that may occur
unilaterally or bilaterally.
CLEFT LIP/PALATE
ASSESSMENT:
•CLEFT LIP – slight notch to a
complete separation from the floor
to the nose.
•CLEFT PALATE – nasal distortion,
midline or bilateral cleft and
variable extension for the uvula and
soft and hard palate.
 CLEFT LIP/PALATE
NURSING INTERVENTION:
•Assess for feeding and swallowing
and handling normal secretions and
breathing patterns
•Assess fluid and calorie intake daily.
•Monitor daily weight
•Monitor feeding techniques: use
specialized feeding techniques,
obturator and special nipples for
feeding
CLEFT LIP/PALATE
NURSING INTERVENTION:
•Encourage the mother to express the
feelings.
•Encourage the mother to hold the child.
•Avoid use of suction or placing objects in the
mouth such as tongue depressor,
thermometer, pacifier, straw.
•Instruct the parents to monitor for signs and
symptoms of infections.
 CLEFT LIP/PALATE
SURGICAL MANAGEMENT:
◦CLEFT LIP REPAIR: placement of lip
protector device or Logan bar to tape
securely to the cheeks to prevent trauma to
the suture line.
◦Position the child on the side /lateral or on
the back and avoid prone position
◦Elbow restraints should be used to prevent
infant from rubbing or injuring the surgical
site.
CLEFT LIP/PALATE
SURGICAL MANAGEMENT:
•CLEFT PALATE REPAIR: the baby is allowed to lie on the
abdomen / prone.
Surgery may be recommended as a two-stage palate repair:
❑with soft palate repair at 3 months of age
❑hard palate repair at 6 months of age
❑called the Malek protocol.
 CELIAC DISEASE
•aka GLUTEN ENTEROPATHY,
MALABSORPTION SYNDROME, or CELIAC
SPRUE
•an immune-mediated abnormal response
to gluten, the protein in wheat, and related
proteins in rye, barley and possibly oats, in
a genetically susceptible individual.
• When children with the disorder ingest
gluten, flattening of the fingerlike
projections (villi) of the small intestine
occurs, preventing the absorption of foods,
especially fat, into the body.
CELIAC DISEASE
ASSESSMENT: •deficiency of fat-soluble
•Acute or insidious diarrhea vitamins A, D, K, and E (the
vitamins are not absorbed
•Steatorrhea (bulky, foul because the fat is not
smelling, fatty stools) absorbed)
•Anorexia •malnutrition
•Vomiting •a distended abdomen from
•Anemia the fat, bulky stools
•Irritability
 CELIAC DISEASE
NURSING INTERVENTION
•Instruct parents and child about
lifelong elimination for gluten sources
(gluten-free diet).
•Administer mineral and vitamin
supplementations including iron, folic
acid and fat-soluble supplements
ADEK.
 HIRSCHSPRUNG’S DISEASE
•Congenital anomaly also known as
CONGENITAL AGANLIONIC
MEGACOLON
•Occurs as the result of an absence of
ganglionic cells in the rectum and
other areas of the affected intestines
•Resulting to inadequate motility in
an intestinal segment
•COMPLICATION: Enterocolitis
 HIRSCHSPRUNG’S DISEASE
ASSESSMENT
INFANT:
◦ Failure to pass meconium
◦ Abdominal distention
◦ Refusal to suck
CHILDREN
◦ Failure to gain weight
◦ Abdominal distention/constipation
◦ Vomiting
◦ Ribbon like and foul smelling stool
HIRSCHSPRUNG’S DISEASE
MANAGEMENT
Moderate to severe disease:
◦ Neonatal period: temporary colostomy to
relieve obstruction
◦ If Child weighs 9 kg (20 lbs): complete
surgical repair is performed
HIRSCHSPRUNG’S DISEASE
NURSING INTERVENTION:
•Maintain low-fiber, high calorie, high protein
•Promote adequate elimination

•MEDICAL MGT:
•administer metronidazole (flagyl) to clear bowel of bacteria
•Monitor intake and output
•Measure abdominal girth
 INTUSSUSCEPTION
•Telescoping of one portion of the bowel in
another portion.
•Obstruction of the passage of intestinal
contents.
INTUSSUSCEPTION
ASSESSMENT
•Currant jelly like stool with blood
and mucus
•Vomiting gastric contents
•Colicky abdominal pain that causes
the child to scream
•Hypoactive or hyperactive bowel
sounds
•Tenderness in the abdomen
•Abdominal distention
 INTUSSUSCEPTION
MANAGEMENT:
•Reduction of the
intussusception must be done
promptly
•Monitor for the signs of
perforation evidenced by fever,
increased heart rate and any
changes in level of
consciousness
 APPENDICITIS
•Inflammation of the appendix
•Can cause peritonitis when
abdominal perforation
happens which could lead to
potential death.
APPENDICITIS
ASSESSMENT
•Pain
•Abdominal pain (Mc Burney’s point)
•Elevated WBC
•Rebound tenderness and abdominal rigidity
•Side-lying position with abdominal guarding
(legs flexed) to relieve pain.
•Difficulty walking and pain in the right hip.
•Anorexia, vomiting
 APPENDICITIS
NURSING MANAGEMENT:
Appendectomy - Surgical removal of the appendix.
PRE-OPERATIVE
◦ NPO status
◦ Secure consent
◦ Monitor for the bowel sounds.
◦ Position: RIGHT SIDE LYING or low to semi-
fowler’s position.
◦ Apply ice pack to the abdomen for 20-30
minutes every hour.
 APPENDICITIS
NURSING MANAGEMENT:
POST-OPERATIVE
◦ Monitor for vital signs.
◦ Maintain NPO until bowel function has returned.
◦ Assess for the incision of signs and symptoms of
infection.
◦ Monitor for the drainage: Penrose drainage
◦ Position: RIGHT SIDE LYING or low to semi-fowler’s
position with legs flexed to facilitate drainage.
◦ Change dressing as prescribed
◦ Administer antibiotics as prescribed.
NEUROLOGIC DISORDERS
 HYDROCEPHALUS
•Accumulation of an excess amount of CSF
in the ventricles or the subarachnoid
space
•Imbalance of CSF absorption or
production caused by malformations,
tumors, hemorrhage, infections or
trauma.
 HYDROCEPHALUS
•CSF accumulation/
imbalance causes
head enlargement • TYPES
and increased ICP. • Communicating /
extraventricular
• Non-communicating /
• Normal ICP Obstructive /
• Neonate: <2mmHg intraventricular
• 1 year old: 2-6 mmHg • Congenital
• Older child: 3-13 mmHg • Acquired (eg.
accident/trauma)
HYDROCEPHALUS
3 MAJOR IMPORTANCE OF CSF
1.To keep the brain tissue buoyant acting as a cushion or
shock absorber.
2.Act as a vehicle in delivering nutrients and removing
wastes in the brain.
3.To flow between the cranium and spine and compensate
for changes in intracranial blood volume
HYDROCEPHALUS
COMMON CAUSE:
•Overproduction of CSF by the choroid
plexus in the first or second ventricle
as could occur from a growing tumor
(rare)
•Obstruction of the passage of fluid in
the narrow aqueduct of Sylvius (the
most common cause) or the foramina
of Magendie and Luschka, the
openings that allow fluid to leave the
fourth ventricle.
•Interference with the absorption of CSF
from the subarachnoid space
 HYDROCEPHALUS
ASSESSMENT:
Infant
•Increased head circumference.
•Thin, widely separated bones of the head that produce
a cracked pot sound (Macewen’s sign) on percussion.
•Anterior fontanel tense, bulging and non-pulsating
•Dilated scalp veins
•Sunsetting eyes
 HYDROCEPHALUS
ASSESSMENT:
Child
•Behavior changes like irritability and lethargy.
•Nystagmus – uncontrollable eye movements aka
“dancing eyes”
•Headache on awakening
•Ataxia – lack of coordination
•Nausea and vomiting
•LATE SIGNS: High shrill cry & seizures
HYDROCEPHALUS

SURGICAL MANAGEMENT:
◦ Ventriculoperitoneal shunt
 HYDROCEPHALUS
NURSING INTERVENTIONS
•Position the child on the un-operated side to
prevent pressure on the shunt valve.
•Keep the child flat as prescribed to avoid
rapid reduction of intracranial fluid.
•Monitor for signs and symptoms of increased
ICP.
•Measure for the head circumference.
•Instruct the parents on how to monitor for
shunt infection or malfunction.
SPINA BIFIDA
•CNS problem resulting from failure of the
neural tube to close during the embryonic
development.
•Related to problems that include
sensorimotor disturbance, dislocated hips,
talipes equinovarum, and hydrocephalus.
TYPES OF SPINA BIFIDA
 SPINA BIFIDA
ASSESSMENT:
•Depends on the spinal cord involvement
•Visible spinal defect
•Flaccid paralysis of the legs
•Altered bladder and bowel function
•Hip and joint deformities
SPINA BIFIDA
DIAGNOSTIC PROCEDURE
•Prenatal:
• Ultrasound
• Fetoscopy
• Amniocentesis (discovery of
increased AFP in amniotic fluid)
• Maternal serum assay (MAFP
levels)
 SPINA BIFIDA
NURSING INTERVENTIONS:
•Observe for the sac and monitor for any presence of lesions.
•Monitor for the neurological assessment.
•Measure for the head circumference.
•Protect the sac, cover with sterile, moist (NSS) non – adherent dressing to maintain the
moisture and content of the sac. Change the dressing every 2 – 4 hours.
•Place the child in prone position to minimize tension on the sac and the risk for trauma.
•Monitor for signs of infection.
•Initiate infection precaution.
•Prepare the family for surgery