Select Inborn Errors of Metabolism Treated With Commercially Available Medical Foods
Inborn Error of Metabolism | Modify or Restrict | Vitamin or Cofactor Responsive | Other Therapies |
|---|---|---|---|
Phenylalanine | <1% of cases are attributable to biopterin synthetic defect and require biopterin supplementation. Sapropterin dihydrochloride treatment lowers blood phenylalanine in an additional 20% to 40% of phenylketonuria patients. Most patients respond to pegylated recombinant phenylalanine ammonia-lyase | Supplemental tyrosine or other large neutral amino acids | |
Tyrosinemia type I | Phenylalanine, tyrosine, methionine | No | |
Tyrosinemia type II | Phenylalanine, tyrosine | No | |
Maple syrup urine disease | Leucine, valine, isoleucine | Rare cases are thiamine responsive | Optimize valine and isoleucine levels to ensure the leucine level remains in the normal range |
Isovaleric acidemia | Leucine | No | Supplemental carnitine and glycine |
Methylmalonic acidemia | Isoleucine, valine, methionine, threonine | Some cases are attributable to defect in cobalamin metabolism | Supplemental carnitine |
Isoleucine, valine, threonine | Supplemental carnitine | ||
Homocystinuria | Methionine | Some cases are pyridoxine responsive | Supplemental folate, betaine (converts homocysteine to methionine) |
Ornithine transcarbamylase deficiency | Protein | No | Supplemental citrulline, benzoate, phenylacetate, phenylbutyrate |
Citrullinemia | Protein | No | Supplemental arginine, benzoate, phenylacetate, phenylbutyrate |
Glutaric aciduria type I | Lysine, tryptophan | Possible role for riboflavin | Supplemental carnitine |
Long-chain fatty acid oxidation disorders | Dietary long-chain fatty acids | Avoid fasting, supplement with medium-chain triglyceride oil or triheptanoin |
From American Academy of Pediatrics. Pediatric Nutrition. 9th ed. American Academy of Pediatrics; 2025.
Therapy for Other Select Inborn Errors of Metabolism
Inborn Error of Metabolism | Modify or Restrict | Vitamin or Cofactor Responsive | Other Therapies |
|---|---|---|---|
Biotinidase deficiency | None | Biotin | |
Familial hypophosphatemic rickets | None | 1,25-dihydroxy-vitamin D | Phosphorus |
Acrodermatitis enteropathica | None | Zinc | |
Pyruvate dehydrogenase deficiency | Low-carbohydrate, high-fat diet | Possibly thiamine responsive | |
Galactosemia (transferase deficiency) | Galactose, lactose | Lactose-free infant formula | |
Glycogen storage diseases | Lactose, fructose, sucrose | Frequent feedings, complex starches, high-protein diet | |
Fructosemia (fructose-1,6-bisphosphatase or aldolase deficiency) | Fructose | Frequent glucose feedings in bisphosphatase deficiency | |
Medium-chain acyl-CoA dehydrogenase deficiency | Avoid fasting, possible supplemental carnitine | ||
Barth syndrome (X-linked 3-methyl-glutaconic aciduria) | None | Pantothenic acid | |
Cystinosis | None | None | Cysteamine, phosphate, potassium, vitamin D, alkali |
Alpha-aminoadipic semialdehyde dehydrogenase deficiency (pyridoxine responsive epilepsy) | Pyridoxine | ||
Cerebral folate deficiency | None | Folinic acid | |
Creatine synthesis disorders | None | Creatine | |
Thiamine-responsive megaloblastic anemia syndrome | None | Thiamine |
CoA, coenzyme A.
From American Academy of Pediatrics. Pediatric Nutrition. 9th ed. American Academy of Pediatrics; 2025.