Choose MetascreenTM Package

 Groups of Inborn Error Metabolism (IEM)  Total number of IEMs screened
Meta 100+ Meta 38

Amino Acidopathies & Organic Acidemia

59

31

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 (IBG)

8.

2-methylbutyryl-CoA dehydrogenase deficiency (2MBG)

9.

Methylmalonic semialdehyde dehydrogenase deficiency

 

10.

Beta-ketothiolase deficiency (βKT)

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) (PKU)

21.

Hyperphenylalaninemia (variant, benign) (H-PHE)

22.

2-methyl 3-hydroxy butyric aciduria (2M3HBA)

23.

Tyrosinemia type I (hepatorenal tyrosinemia)

24.

Tyrosinemia type II (oculocutaneous tyrosinemia)

25.

Tyrosinemia type III (4-hydroxyphenylpyruvate dioxygenase def.)

 

26.

Transient tyrosinemia of the newborn

 

27.

Tyrosinemia caused by a liver disease

 

28.

Maple syrup urine disease(MSUD)

 

29.

N-acetylglutamate synthase deficiency

30.

Carbamylphosphate synthetase deficiency

31.

Ornithine transcarbamylase deficiency (OCT)

32.

Citrullinemia (argninosuccinate synthase deficiency)

33.

Citrullinemia type II (citrin deficiency)

34.

Argininosuccinic academia

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.

Valinemia

 

42.

Hyperleucine-isoleucinemia

 

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.

Hyperprolinemia type I

 

53.

Hyperprolinemia type II

 

54.

Hyper hydroxyprolinemia

 

55.

2-hydroxyglutaric aciduria

 

56.

Hawkinsinuria

 

57.

Biotinidase deficiency

58.

Fumarate hydratase deficiency

 

59.

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome(HHH)

 

Disorder of Sugar Metabolism

8

3

1.

Classic galactosemia

2.

Galactokinase deficiency

3.

Galactose epimerase deficiency

4.

Transient galactosemia

5.

D-glyceric aciduria

 
6.

Fructose-1, 6-diphosphatase deficiency

 
7.

Endogenous sucrosuria

 
8.

Lactose intolerance

 

Disorders of Fatty Acid Metabolism

6

4

1.

Short-chain acyl-CoA dehydrogenase deficiency

2.

Medium-chain acyl-CoA dehydrogenase deficiency

3.

Long-chain 3-OH acyl-CoA dehydrogenase deficiency

4.

Medium/short-chain L-3-OH acyl-CoA dehydrogenase deficiency

5.

Ethylmalonic encephalopathy

 

6.

Dicarboxylic aciduria

 

Peroxisomal Diseases

5

-

1.

Zellweger syndrome

 

2.

Neonatal adrenoleukodystrophy

 

3.

Infantile refsum disease (IRD)

 

4.

Zellweger-like syndrome (ZLS)

 

5.

Primary hyperoxaluria

 

Disorders of Purine, Pyrimidine metabolism

9

-

1.

Adenosine deaminase deficiency

 

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 acidemia, Hyperpyruvic Metabolism

7

-

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

12

-

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.

Hyperpipecolatemia

 

11.

Neonatal intrahepatic cholestasis caused by citrin deficiency (NICD)

 

12.

Beta-aminoisobutyric aciduria

 

Total of IEMs Tested

106

38

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Email: metascreen@id.cordlife.com

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