新生儿遗传病检测

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代谢性遗传病综述简介:代谢性遗传病是机体不能将某些蛋白质和脂肪等进行正常代谢途径,使得代谢中间产物在血液、尿液、器官中堆积,造成健康损害。这类疾病通常在新生儿期或婴幼儿期发病,对患儿的生长发育造成不可逆转的损害,如发育迟缓、智力低下等,甚至导致死亡。一些代谢性遗传病是致命的;另一些如能在起病前或起病早期及早发现并予正确干预,患者预后良好,可以获得正常人一样健康的人生。

  1. Propionic acidemia(丙酸血症)
  2. Methylmalonic acidemia (methylmalonyl-CoA mutase)(甲基丙二酸血症(甲基丙二酰辅酶A变位酶突变))
  3. Methylmalonic acidemia (cobalamin disorders)(甲基丙二酸血症(氰钴胺素失调))
  4. Isovaleric acidemia(异戊酸血症)
  5. 3-Methylcrotonyl-CoA carboxylase deficiency(3-甲基巴豆酰辅酶A羧化酶缺乏症)
  6. 3-Hydroxy-3-methyglutaric aciduria(3-羟基-3-甲基戊二酰辅酶A裂合酶缺乏症)
  7. Holocarboxylase synthase deficiency(全羧化酶合成酶缺乏症)
  8. β-Ketothiolase deficiency(β-酮硫解酶缺乏症)
  9. Glutaric acidemia type I(I型戊二酸血症)
  10. Carnitine uptake defect/carnitine transport defect(肉碱转运缺陷症/原发性肉碱缺乏症)
  11. Medium-chain acyl-CoA dehydrogenase deficiency(MCAD缺乏症/中链酰基辅酶A脱氢酶)
  12. Very long-chain acyl-CoA dehydrogenase deficiency(VLCAD缺乏症/极长链酰基辅酶A脱氢酶缺乏症)
  13. Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency(长链羟酰基辅酶A脱氢酶缺乏症)
  14. Trifunctional protein deficiency(线粒体三功能蛋白缺陷)
  15. Argininosuccinic aciduria(精氨酸琥珀酸尿症)
  16. Citrullinemia, type I(瓜氨酸血症 1型)
  17. Maple syrup urine disease(枫糖尿症)
  18. Homocystinuria(高胱氨酸尿症)
  19. phenylketonuria(苯丙酮尿症)
  20. Tyrosinemia, type I(酪氨酸血症 ,1型)
  21. Primary congenital hypothyroidism(先天性甲状腺功能低下)
  22. Congenital adrenal hyperplasia(先天性肾上腺皮质增生)
  23. S,S disease (Sickle cell anemia)(镰状红细胞贫血)
  24. S, Beta-thalassemia(β-地中海贫血)
  25. Biotinidase deficiency(生物素酰胺酶缺乏症)
  26. Cystic fibrosis(囊性纤维病)
  27. Classic galactosemia(经典型半乳糖血症)
  28. Methylmalonic acidemia with homocystinuria(甲基丙二酸血症伴合并高胱氨酸尿症(钴胺素传递蛋白缺乏症))
  29. Isobutyrylglycinuria(异丁酰辅酶A脱氢酶缺乏)
  30. 2-Methylbutyrylglycinuria(2-甲基丁酰辅酶A脱氢酶缺乏)
  31. 3-Methylglutaconic aciduria(3-甲基戊烯二酰辅酶A水合酶缺乏)
  32. 2-Methyl-3-hydroxybutyric aciduria(2-甲基-3-羟基丁酸尿症 /17β-羟化类固醇脱氢酶缺乏症10型(HSD10))
  33. Short-chain acyl-CoA dehydrogenase deficiency(短链酰基辅酶A脱氢酶缺乏)
  34. Medium/short-chain L-3-hydroxyacl-CoA dehydrogenase deficiency(中短链l-3-羟烷基辅酶A脱氢酶缺乏)
  35. Glutaric acidemia type II(戊二酸血症II型)
  36. Carnitine palmitoyltransferase type I deficiency(肉碱棕榈酰转移酶I型缺陷)
  37. Carnitine palmitoyltransferase type II deficiency(肉碱棕榈酰转移酶II型缺陷)
  38. Carnitine acylcarnitine translocase deficiency(肉碱脂酰转移酶缺乏症)
  39. Argininemia(精氨酸血症)
  40. Citrullinemia, type II(瓜氨酸血症 2型)
  41. Hypermethioninemia(高甲硫氨酸血症)
  42. Biopterin defect in cofactor biosynthesis(四氢生物蝶呤缺乏)
  43. Tyrosinemia, type II(酪氨酸血症,2型)
  44. Tyrosinemia, type III(酪氨酸血症,3型)
  45. Galactokinase deficiency(半乳糖激酶缺乏症(II型半乳糖血症))

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