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1. Carbamoyl phosphate synthetase deficiency

2. Cbl disease

3. Ceroid lipofuscinoses

4. Citrullinemia

5. Hartnup disease

6. Homocystinuria

7. Hurler-Scheie, Scheie disease

8. Krabbe disease

9. Lysinuric protein

10. β-mannosidosis

11. Maple syrup urine disease

12. 5, 10-Methylenetetrahydrofolatereductase deficiency

13. Metachromatic leukodystrophy

14. Mitochondrial disease (MELAS)

15. Niemann-Pick type C disease

16. Ornithine transcarbamylase deficiency

17. Porphyria

18. Sanfilippo disease

19. Tay-Sachs, Sandhoff-late onset

20. Wilson disease