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1. Biopterin synthesis disorders

2. Citrullinemia

3. Congenital disorders of glycosylation

4. Glycogenosis 1b

5. Hyperphenylalaninemia

6. Isolated-dominant (MIM163610)

7. Isoveric acidemia

8. Menkes disease

9. Methylmalonic acidemia

10. Molybdenum cofactor deficiency

11. Niemann-Pick type C

12. SCAD deficiency

13. Propionic acidemia

14. Pyruvate carboxylase deficiency

15. VLCAD deficiency

16. Weaver syndrome