Metabolic and Genetic Disorders Flashcards
Inability to metabolize galactose, leading to liver damage.
Galactosemia
No specific drug; strict lactose/galactose-free diet Collaborative:
Metabolic specialist
Nutritionist for formula planning
Genetic testing for family
Inability to metabolize phenylalanine; can cause intellectual disability.
Phenylketonuria (PKU)
None, but requires low-phenylalanine diet
Sapropterin in some cases Collaborative:
Dietitian: special formula (e.g., Lofenalac)
Newborn screening
Regular phenylalanine blood levels
Enzyme deficiency causing red cell breakdown.
G6PD Deficiency
Avoid triggers (e.g., sulfa drugs, aspirin)
Iron supplements if anemia Collaborative:
Hematology consult
Education for lifelong avoidance of oxidative drugs
Inability to break down branched-chain amino acids; urine smells sweet.
Maple Syrup Urine Disease
Special formula (low leucine, isoleucine, valine)
Dextrose IV in crisis to stop catabolism Collaborative:
Metabolic specialist
Emergency plan for decompensation
Genetic counseling
Blockage in bile ducts of infants leading to liver damage.
Biliary Atresia
Fat-soluble vitamins (A, D, E, K)
Ursodeoxycholic acid – improve bile flow
Phenobarbital – sometimes used pre-op to stimulate bile Collaborative:
Pediatric surgery for Kasai procedure
Hepatology follow-up
Possible liver transplant
Sudden inflammation of stomach and intestines, often viral.
Acute Gastroenteritis
ORS (Oral Rehydration Solution) – first-line
Zinc supplements – reduce diarrhea duration
Antiemetics (ondansetron) – if vomiting persists
Antibiotics only if bacterial (e.g., shigella) Collaborative:
Infection control
Nutritionist for refeeding plan
Monitor hydration status
Low thyroid hormone at birth; affects growth and development.
Congenital Hypothyroidism
Levothyroxine – lifelong replacement Collaborative:
Endocrinology
Monitor TSH & T4 regularly
Early intervention programs
