Mi canal en YT https://www.youtube.com/channel/UCPFK0oIUXZf2ZgN2HvAkr9Q Quick review of nutritional therapy in children with in-born errors of metabolism.

1. Nutritional therapy in children with in-born errors
of metabolism

2. 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:10.1016/j.ymgme.2012.07.005

3. 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:10.1016/j.ymgme.2012.07.005

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

5. 1Levy PA. Inborn Errors of Metabolism: part 1: Overview. Pediatr Rev. 2009Apr; 30(4):131

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

7. 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:10.1159/000312813

8. 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:10.1159/000312813

9. • 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:10.1159/000312813