Metabolic, gastrointestinal, and Neurologic disease

• Metabolic disorders

  is aka 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 in children

  • Digestive problems
  • Musty odor urine
  • Mental retardation
• Phenylketonuria assessment in 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

  2. Restrict phenylalanine intake: high protein foods

  3. Monitor for physical, mechanical, neurological and intellectual intelligence
• Phenylketonuria management

  • Sapropterin (Kuvan) - works by increasing tolerance to phenylalanine
  • Lofenalac - formula that is extremely low in phenylalanine
  • Monitor phenylalanine levels (which should be below 8 mg/dl)
  • 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

  1. Intensive nutritional counseling (low protein diet)

  2. 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

  1. Eat a high carbohydrate diet with snacks between meals to prevent hypoglycemia

  2. Continuous glucose nasogastric or gastrostomy feeding during the night may be necessary

  3. 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

  • Birth: extreme Moro reflex, mild hypotonia
  • 6 months: without head control, unable to sit up or roll over without support, cherry-red macula (due to lipid deposits)
  • 1 year: Spasticity
  • 2 years: generalized seizures and blindness, most children die of cachexia (malnutrition) and pneumonia by 3 to 5 years of age
• Cleft lip or 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

  1. Assess for feeding and swallowing and handling normal secretions and breathing patterns

  2. Assess fluid and calorie intake daily

  3. Monitor daily weight

  4. Monitor feeding techniques: use specialized feeding techniques, obturator and special nipples for feeding

  5. Encourage the mother to express the feelings

  6. Encourage the mother to hold the child

  7. Avoid use of suction or placing objects in the mouth such as tongue depressor, thermometer, pacifier, straw

  8. Instruct the parents to monitor for signs and symptoms of infections
• Cleft lip/palate surgical management

  1. 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

  2. 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 and hard palate repair at 6 months of age (Malek protocol)
• Celiac disease


  • Also known as 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

  • Acute or insidious diarrhea
  • Steatorrhea (bulky, foul smelling, fatty stools)
  • Anorexia
  • Vomiting
  • Anemia
  • Irritability
  • Deficiency of fat-soluble vitamins A, D, K, and E
  • Malnutrition
  • A distended abdomen from the fat, bulky stools
• Celiac disease nursing intervention

  1. Instruct parents and child about lifelong elimination for gluten sources (gluten-free diet)

  2. Administer mineral and vitamin supplementations including iron, folic acid and fat-soluble supplements ADEK
• Hirschsprung's disease


  • Congenital anomaly also known as congenital aganglionic 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
• Normal ICP

  • Neonate: <2mmHg
  • 1 year old: 2-6 mmHg
  • Older child: 3-13 mmHg
• Importance of CSF


  • To keep the brain tissue buoyant acting as a cushion or shock absorber
  • Act as a vehicle in delivering nutrients and removing wastes in the brain
  • To flow between the cranium and spine and compensate for changes in intracranial blood volume
• Phenylalanine Hydroxylase

  Enzyme that lacks in PKU
• Phenylalanine is converted to Tyrosine, a precursor of melanin, epinephrine, and Thyroxine (T4)
• PKU newborn screening after 24 to 48 hours of birth
• Branched-chain alpha-keto acid dehydrogenase

  enzyme that lacks in maple syrup disease
• Opisthotonos (Maple Syrup Disease) - spasm of the muscle that is causing backward arching oh head, neck, and spine
• galactose-1-phosphate uridyltransferase


  enzyme that lacks in galactosemia
• (Galactosemia)

  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 sex-linked disorder
• Glycogenesis- is glycogen formation
• glycogenolysis - conversion of glycogen to glucose