The dietary management of inborn errors of metabolism.
Many inborn errors have now been described that can be treated by alterations in diet. Such treatment requires an understanding of both the biochemistry of the defect and of normal nutritional requirements. The principal strategies are cofactor therapy, steps to prevent accumulation of toxic metabolites and the replacement of essential nutrients that are deficient as a result of the metabolic block. It is essential to make sure that any diet used for more than a brief period is complete and capable of sustaining normal growth and development. The treatment of disorders of carbohydrate and amino acid metabolism including organic acidaemias and disorders of the urea cycle and of fat oxidation are discussed.
D000208:Acute Disease; D000592:Amino Acid Metabolism, Inborn Errors / Q000178:diet therapy; D000596:Amino Acids / Q000008:administration & dosage / Q000627:therapeutic use; D000601:Amino Acids, Essential / Q000378:metabolism; D001708:Biopterins / Q000031:analogs & derivatives / Q000172:deficiency; D002648:Child; D002675:Child, Preschool; D003541:Cystathionine beta-Synthase / Q000172:deficiency; D004040:Dietary Carbohydrates / Q000627:therapeutic use; D004044:Dietary Proteins / Q000378:metabolism / Q000627:therapeutic use; D004734:Energy Metabolism; D005633:Fructose Intolerance / Q000178:diet therapy; D005693:Galactosemias / Q000178:diet therapy; D005943:Gluconeogenesis; D005953:Glycogen Storage Disease Type I / Q000178:diet therapy; D006712:Homocystinuria / Q000178:diet therapy; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008661:Metabolism, Inborn Errors / Q000178:diet therapy*; D010651:Phenylalanine Hydroxylase / Q000172:deficiency; D010661:Phenylketonurias / Q000178:diet therapy
D000596:Amino Acids; D000601:Amino Acids, Essential; D004040:Dietary Carbohydrates; D004044:Dietary Proteins; D001708:Biopterins; D010651:Phenylalanine Hydroxylase; D003541:Cystathionine beta-Synthase; C003402:sapropterin