检测超过100种以上的代谢性疾病

氨基酸症及有机尿症 (Acid and Organic Acid Metabolism Disorders)
  1. Propionic aciduria
  2. Holocarboxylase synthetase deficiency
  3. Methylmalonic aciduria (Cbl C and Cbl D)
  4. Methylmalonic Aciduria
  5. Methylmalonic aciduria (Cbl A and Cbl B)
  6. Malonic aciduria
  7. Isobutyryl-CoA dehydrogenase deficiency
  8. 2-methylbutyryl-CoA dehydrogenase deficiency
  9. Methylmalonic Semialdehyde Dehydrogenase Deficiency
  10. Beta-ketothiolase deficiency
  11. Isovaleric aciduria
  12. 3-Methylcrotonylglycinuria
  13. 3-Methylglutaconic aciduria (type I – hydratase deficiency)
  14. Barth Syndrome
  15. 3-hydroxy 3-methyl glutaric aciduria
  16. Glutaric aciduria type II(H-PHE)
  17. Glutaric aciduria type I
  18. Mevalonate kinase deficiency
  19. Glyceroluria
  20. Phenylketonuria (phenylalanine hydroxylase deficiency)
  21. Hyperphenylalaninuria (variant, benign)
  22. 2-Methyl 3-hydroxy butyric aciduria
  23. Tyrosinuria type I (hepatorenal tyrosinemia)
  24. Tyrosinuria type II (oculocutaneous tyrosinemia)
  25. Tyrosinuria type III (4-hydroxyphenylpyruvate dioxygenase def.)
  26. Transient Tyrosinuria of the newborn
  27. Tyrosinuria caused by a liver disease
  28. Maple syrup urine disease
  29. N-acetylglutamate synthase deficiency
  30. Carbamylphosphate synthetase deficiency
  31. Ornithine transcarbamylase deficiency
  32. Citrullinuria (argninosuccinate synthase deficiency)
  33. Citrullinuria type II (citrin deficiency)
  34. Argininosuccinic aciduria
  35. Argininuria
  36. Hypermethioninuria (MAT I/III deficiency)
  37. Homocystinuria cystathionine beta-synthase deficiency
  38. Alkaptonuria
  39. Tada syndrome
  40. Encephalopathy due to hydroxykynureninuria
  41. Valinuria
  42. Hyperleucine-isoleucinuria
  43. Dihydrolipoyl dehydrogenase(E3) deficiency
  44. Beta-hydroxyisobutyryl CoA deacylase deficiency
  45. Histidinuria
  46. Hartnup syndrome
  47. Lysinuric protein intolerance
  48. Alpha-ketoadipic aciduria
  49. Saccharopinuria
  50. Seizures-intellectual deficit due to hydroxylysinuria
  51. Cystathioninuria
  52. Hyperprolinuria type I
  53. Hyperprolinuria type II
  54. Hyper hyperprolinuria
  55. Hawkinsinuria
  56. Biotinidase deficiency
  57. Fumarate hydratase deficiency
  58. Hyperornithinuria-Hyperammonuria-Homocitrullinuria Syndrome
  59. 2-hydroxyglutaric aciduria
脂肪酸代谢异常 (Fatty Acid Metabolism Disorders)
  1. Short-chain acyl-CoA dehydrogenase deficiency
  2. Medium-chain acyl-CoA dehydrogenase deficiency
  3. Medium/short-chain L-3-OH acyl-CoA DH deficiency
  4. Long-chain 3-OH acyl-CoA dehydrogenase deficiency
  5. Ethylmalonic encephalopathy
  6. Dicarboxylic aciduria
嘌呤和嘧啶代谢异常 (Purine & Pyrimidine Metabolism Disorders)
  1. Disorders of Purine, Pyrimidine Metabolism
  2. Lesch-Nyhan syndrome
  3. Kelley-Seegmiller syndrome
  4. Adenine phosphoribosyltransferase deficiency
  5. Hereditary xanthinuria
  6. Orotic aciduria
  7. Dihydropyrimidine dehydrogenase deficiency
  8. Dihydropyrimidinase deficiency
  9. Beta-ureidopropionase deficiency
其它代谢异常 (Other IEMs)
  1. Hyperglycinuria
  2. Sarcosinuria
  3. Imidazole aminoaciduria
  4. Formiminoglutamic aciduria
  5. Carnosinuria
  6. Canavan disease
  7. Glutathione synthetase deficiency
  8. Gamma-glutamyl transpeptidase deficiency
  9. Succinic semialdehyde dehydrogenase deficiency
  10. Hyperpipecolaturia
  11. Neonatal intrahepatic cholestasis caused by citrin deficiency
  12. Beta-aminoisobutyric aciduria
糖代谢异常 (Sugar Metabolism Disorders)
  1. Classic galactosenuria
  2. Galactokinase deficiency
  3. Galactose epimerase deficiency
  4. Transient galactonuria
  5. D-glyceric aciduria
  6. Fructose-1, 6-Diphosphatase Deficiency
  7. Endogenous sucrosuria
  8. Lactose intolerance
过氧化物酶体病 (Peroxisomal Disorders)
  1. Zellweger syndrome
  2. Neonatal adrenoleukodystrophy
  3. Infantile Refsum disease
  4. Zellweger-like syndrome
  5. Primary Hyperoxaluria
乳酸尿症、超丙酮酸尿症 (Lactic Acid, Hyperpyruvic Acid Metabolic Disorders)
  1. Pyruvate dehydrogenase e1-beta deficiency
  2. Pyruvate dehydrogenase phosphatase deficiency
  3. Pyruvate carboxylase deficiency
  4. Pyruvate decarboxylase deficiency
  5. Leigh syndrome
  6. Cytochrome c oxidase deficiency
  7. De Toni-Debré-Fanconi syndrome

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想要了解更多有关代谢症的信息,请游览以下网站:
  1. American College of Medical Genetics and Genomics www.acmg.net
  2. Genetics Home Reference ghr.nlm.nih.gov
  3. Online Mendelian Inheritance in Man www.omim.org
  4. Orphanet www.orpha.net
  5. PubMed Pubmed.gov
免责声明 Metascreen®是康盛人生集团的注册商标。Metascreen®品牌旗下的筛选试验是通过康盛人生(香港)有限公司(Cordlife Hong Kong, CLHK)进行。 CLHK致力于为新生儿提供快与准确的代谢筛查。此公司已设立质量管理体系,以确保能达到最准确的检查结果。正如任何实验室测试,由于各种原因,包括但不限于病人在采集样本时的年龄,病人的健康状态,样本质量和其他因素等,获得假阳性或假阴性结果不能完全避免。因此,患疾病的可能性不应该仅根据检查结果而被排除。如有观察到的病征或症状,应马上让专业医生跟进。