Nutritional therapy in children with in-born errors of metabolism

Introduction Inborn errors of metabolism (IEM) include inherited biochemical disorders in which a specific enzyme defect interferes with the normal metabolism of protein, fat, or carbohydrate. Medical foods and dietary supplements are used to treat (IEM). Certain compounds accumulate in the body to toxic levels and the levels of others that the body normally makes may become deficient. 1 Camp, K. M., Lloyd-Puryear, M. A., & Huntington, K. L. (2012). Nutritional Treatment for Inborn Errors of Metabolism: Indications, Regulations, and Availability of Medical Foods and Dietary Supplements Using Phenylketonuria as an Example. Molecular Genetics and Metabolism, 107(1-2), 3–9. doi: /j.ymgme

Importance of early identification and treatment oportunities Newborn screening identifies infants affected by IEM Through early identification and initiation of treatment, many of the adverse outcomes of IEM can be mitigated or prevented. Nutrition constitutes an almost innocuous intervention, cheap and that has not very threatening adverse effects whatsoever. 1 1 Camp, K. M., Lloyd-Puryear, M. A., & Huntington, K. L. (2012). Nutritional Treatment for Inborn Errors of Metabolism: Indications, Regulations, and Availability of Medical Foods and Dietary Supplements Using Phenylketonuria as an Example. Molecular Genetics and Metabolism, 107(1-2), 3–9. doi: /j.ymgme

Overview Amino acid metabolism disorders Carbohydrate disorders Fatty acid oxidation defects Organic acid disorders Lysosomal storage diseases Mitochondrial diseases Peroxisomal disorders Urea cycle disorders

1Levy PA. Inborn Errors of Metabolism: part 1: Overview. Pediatr Rev. 2009Apr; 30(4):131

Levy PA. Inborn Errors of Metabolism: part 1: Overview. Pediatr Rev. 2009Apr; 30(4):131

Phenylketonuria PKU is one of a class of hyperphenylalaninemia and is the most common IEM requiring nutritional treatment. Insufficient or absent phenylalanine hydroxylase Phe  Tyr Therapy: Dietary Phe from intact protein sources can be restricted to the amount that allows for normal growth and development while preventing excessive build-up of Phe in the blood. 1 MacLeod, E. L., & Ney, D. M. (2010). Nutritional Management of Phenylketonuria. Annales Nestlé, 68(2), 58–69. doi: /

Diet Restriction of all sources of animal protein, legumes and nuts, bread, pasta, rice and some vegetables. Consumption of an AA-based, phe-free formula (600–900 ml per day) or AA medical food is needed to provide adequate nutritional needs. 1 MacLeod, E. L., & Ney, D. M. (2010). Nutritional Management of Phenylketonuria. Annales Nestlé, 68(2), 58–69. doi: /

Total protein intake of at least 3 g/kg body weight per day for children under 2 years of age and 2 g/kg body weight per day for children over 2 years of age Normal Phe and Tyr requirements 25-27mg/kg per day in adults Vitamins (B6, B12) and minerals should be added to daily diet. 1 MacLeod, E. L., & Ney, D. M. (2010). Nutritional Management of Phenylketonuria. Annales Nestlé, 68(2), 58–69. doi: /