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1. α-1-Antitrypsin deficiency

2. Citrin deficiency (citrullinemia)

3. Cystic fibrosis

4. Congenital disorders glycosylation

5. Defects of bile acid synthesis

 

6. Electro transport chain disorders

7. Galactosemia

8. Glycogen storage disease type IV

9. (Neonatal) Hemochromatosis

10. Peroxisomal disorders

11. Hepatorenal tyrosinemia

12. Niemann-Pick type C

13. Pyruvate kinase deficiency

14. Transaldolase deficiency

15. Tyrosinemia type I

16. Wilson disease