疾 病 資 訊 

B1. Biotinidase deficiency

B2. Cystic fibrosis

B3. Medium-chain acyl-CoA dehydrogenase deficiency

B4. Sickle cell disease

C1. Argininosuccinase deficiency

C2. Citrullinemia (Argininosuccinic acid synthetase deficiency)

C3. Glutaric aciduria type I

C4. Isovaleric acidemia

C5. Methylmalonic aciduria

C6. Propionic acidemia

C7. Tyrosinemia type I

C8. Tyrosinemia type II

C9. Argininemia

C10. Glutathione synthetase deficiency (5-oxoprolinuria)

C11. Hyperammonemia,hyperornithinemia,homocitrullinuria

C12. 3-Hydroxy-3-methyl-glutaric acidemia

C13. Isobutyryl-CoA dehydrogenase deficiency

C14. Malonic aciduria (Malonyl-CoA decarboxylase deficiency)

C15. 2-Methylbutyryl-CoA dehydrogenase deficiency (SBCAD)

C17. Nonketotic hyperglycinemia

C19. Hyperprolinemia type I

C20. Hyperprolinemia type II

C22. Multiple carboxylase deficiency

C23. Carnitine/Acylcarnitine translocase deficiency

C24. Carnitine palmitoyltransferase deficiency type I

C25. Carnitine palmitoyltransferase deficiency type II

C26. 2,4 Dienoyl-CoA reductase deficiency

C27. Long-chain acyl-CoA dehydrogenase deficiency

C29. Short-chain acyl-CoA dehydrogenase deficiency

C30. Short-chain hydroxy acyl-CoA dehydrogenase deficiency

C31. Very-long-chain acyl-CoA dehydrogenase deficiency

C32. Carbamoylphosphate synthetase deficiency (CPS)

C33. N-acetylglutamate synthetase deficiency (NAGS)

C34. Ornithine transcarbamylase deficiency (OTC)

C35. 3-Methylglutaconyl-CoA hydratase deficiency Type I (3MGA Type I)

C36. 2-Methy-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBD)

C37. Carnitine Transporter Defect

D1. Duchenne muscular dystrophy

D3. Wilson disease

D4. Fabry disease

D5. Biliary Atresia

D7. Severe Combined Immunodeficiency (SCID)