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1.  α-1-Antitrypsin deficiency

2. Cholesteryl ester storage disease

3. Congenital disorder of glycosylation (CDG-X)

4. Cystic fibrosis

 

5. Coeliac disease

6. Electron transport disorders

7. Fructose intolerance

8. Galactosemia

9. Gaucher disease

10. Glycogenosis types I and IV

11. Hematochromatosis

12. Hepatorenal tyrosinemia

13. Hypermethioninemia

14. Mitochondrial DNA depletion

15. Niemann-Pick disease

16. Phosphoenolpyruvate carboxykinase deficiency

17. Progressive intrahepatic cholestasis

18. Thalassemia

19. Transaldolase deficiency

20. Urea cycle disorders

21. Wilson disease

22. Wolman disease