Supplements and Co-factors in the Treatment of Metabolic Disorders

1. Supplements and Co-factors in the Treatment of Metabolic Disorders Lynne A. Wolfe, MS, CRNP, BC Metabolic Nurse Practitioner Children’s Hospital of Pittsburgh

2. Food Groups of Metabolic Disease PROTEIN FAT SUGAR UREA CYCLE C Mitochondria TCA ATP ETC C

3. Current Therapy for Metabolic Disease Avoid Catabolism • Newborn Weight Loss • Febrile Illnesses, trauma, surgery • Provide Calories from “non-offending” foods groups

4. Current Therapy of Metabolic Disease Replace “created” deficiencies • Calcium and other macro/micronutrients • Carnitine • Essential Fatty acids

5. Current Therapy of Metabolic Disease Provide elements not released or able to be used from apoenzyme • Biotin - Biotinidase def • Cobalamin

6. Current Therapy of Metabolic Disease Remove Toxic build up • Carnitine in OA’s & FOD’s • Glycine - Isovaleric acidemia • Sodium Benzoate and Dextromethorphan - Nonketotic Hyperglycinemia • Sodium Phenylbutyrate - Urea Cycle disorders

7. Current Therapy of Metabolic Disease Go around metabolic block or create a block we can manage • MCT Oil - Long chain FOD’s • Orfadine (NTBC) - Tyrosinemia

8. Current Therapy of Metabolic Disease Augment Enzyme function • Riboflavin - FOD’s, GAII • Biotin - Propionic acidemia

9. Food Groups of Metabolic Disease Alanine PROTEIN FAT SUGAR Serum Amino acids Ammonia BCAA Lactate/Pyruvate UREA CYCLE C Mitochondria TCA ATP ETC Abnormal Urine Organic acids Low Carnitine C

10. Current Treatment • Restrict Offending Amino acids • Supplement single Amino acids as needed • Carnitine supplementation • Add calories with carbohydrates and fats • Biotin, Glycine in specific disorders • +/- Antibiotics (Flagyl)

11. ? Potential New Treatments • BH4 supplementation - PKU • Enzyme Replacement - PKU • CoQ • Antioxidant Vitamins • LNAA supplementation • More aggressive Organ Transplantation

12. Food Groups of Metabolic Disease Alanine PROTEIN FAT SUGAR Serum Amino acids Ammonia Lactate/Pyruvate UREA CYCLE C Mitochondria TCA ATP ETC Abnormal Urine Organic acids Nl/Low Carnitine C

13. Current Treatment • Strict, very low protein diet • Single Amino acid supplements • Sodium Phenylbutyrate/Acetate/Benzoate • +/- B Vitamins • +/- Carnitine

14. ? Potential New Treatments • IV Phenylbutyrate/acetate • Gene therapy

15. Food Groups of Metabolic Disease Alanine PROTEIN FAT SUGAR Abnormal Acylcarnitines Lactate/Pyruvate UREA CYCLE C Mitochondria TCA ATP ETC Abnormal Urine Organic acids Nl/Low Carnitine C

16. Current Treatment • Avoid Fasting • Low Fat diet, provide extra calories with Protein and Carbohydrates • MCT Oil in long chain defects • +/-Essential Fatty acid supplements • +/- DHA • +/- Riboflavin • +/- Carnitine • Avoid Toxins (Depakote etc…)

17. ? Potential New Treatments • Creatine • CoQ • Antioxidant Vitamins

18. Other supplements ? • Cornstarch • Glutamine • Inulin (FOS fiber) • Antibiotics • Senna • Periactin (Cyproheptadine) • Zofran (Ondansetron)

19. QUESTIONS ????? THANK YOU