疾 病 資 訊 


直接點選疾病名稱或名稱後的數字可連結至 Online Mendelian Inheritance in Man, OMIM (TM).
<< http://www.ncbi.nlm.nih.gov/omim/ >> 資料庫之相關紀錄

A. 國外已有部分地區列入常規篩檢項目,且國內有一定發生率之疾病

A1. Congenital adrenal hyperplasia

1 2 3 4

A2. Maple syrup urine disease
  Type IA
  Type IB
  Type II
  Type III

 

B. 國外已有部分地區列入常規篩檢項目,但國內發生率不明確之疾病

B1. Biotinidase deficiency

B2. Cystic fibrosis

B3. Medium-chain acyl-CoA dehydrogenase deficiency

B4. Sickle cell disease

 

C. 國外已有少部分地區列入質譜儀篩檢項目,但國內發生率或治療預後情形不明確之疾病

C1. Argininosuccinase deficiency

C2. Citrullinemia (Argininosuccinic acid synthetase deficiency)

C3. Glutaric aciduria type I

C4. Isovaleric acidemia

C5. Methylmalonic aciduria

1 2 3 4 5 6 7 8

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)

C16. Mitochondrial acetoacetyl-CoA thiolase deficiency
  (Beta-ketothiolase deficiency)

C17. Nonketotic hyperglycinemia

C18. Glutaric aciduria type II
  Type IIA ( Multiple acyl-CoA dehydrogenase deficiency (MADD), Ethylmalonic acidemia )
  Type IIB  
  Type IIC  

C19. Hyperprolinemia type I

C20. Hyperprolinemia type II

C21. 3-Methylcrotonyl-CoA carboxylase deficiency
  TypeI
  TypeII

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

C28. Long-chain hydroxy acyl-CoA dehydrogenase deficiency
  (Trifunctional protein deficiency)
  TypeI  
  TypeII  

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

 

D. 其他疾病

D1. Duchenne muscular dystrophy

D2. Gaucher disease
  TypeI
  TypeII
  TypeIII

D3. Wilson disease

D4. Fabry disease

D5. Biliary Atresia

D6. Congenital Toxoplasmosis

D7. Severe Combined Immunodeficiency (SCID)

 

 


10699 台北郵政 26-624 號信箱  電話:(02) 2703-6080 傳真:(02) 2703-6070

 Copyright: 預防醫學基金會    Updated on : 19 Jul, 2006