More than 100+ metabolic conditions tested

From your newborn baby's single urine specimen, more than 100 metabolic disorders from 9 groups of inborn errors of metabolism can be identified via Metascreen®. Below is a complete list of the metabolic disorders that can be detected with Metascreen®.

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
  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
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
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
Peroxisomal disorders
  1. Zellweger syndrome
  2. Neonatal adrenoleukodystrophy
  3. Infantile Refsum disease
  4. Zellweger-like syndrome
  5. Primary Hyperoxaluria
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
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
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
For more information about the conditions, please visit the following websites:

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