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Table 1 Inherited metabolic disorders included in this study and number of patients.

From: The diagnosis of inherited metabolic diseases by microarray gene expression profiling

Disorder

Num of patients

 

N = 68

Lysosomal storage disorders

 

Niemann Pick A, B, C

7

Gaucher disease

1

Tay-Sachs disease

2

Cystinosis

1

Batten's disease

1

Aspartylglucosaminuria

1

Fabry's disease

1

Farber's disease

1

Purine and Pyrimidine disorders

 

Lesch-Nyham disease/HPRT deficiency

3

Purine nucleotidase (PNP) deficiency

2

Adenylosuccinate lyase (ADSL) deficiency

1

Adenosine deaminase (ADA) deficiency

1

Dihydropyrimidine dehydrogenase (DPD) deficiency

2

Peroxisomal disorders

 

Zellweger disease

4

Adrenoleukodystrophy

2

Rhizomelia chondrodisplasia punctata

1

Urea cycle defect

 

Argininosuccinic aciduria

2

Fatty acid oxidation disorders

 

Carnitine transport defect

2

Short-chain acyl-CoA dehydrogenase (SCAD) deficiency

1

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency

2

Very long-Chain acyl-CoA dehydrogenase (VLCAD) deficiency

1

Mitochondrial disorders

 

Deoxy-guanosine kinase (DGUOK) deficiency

1

Surfeit-1 (SURF1) deficiency

1

Polymerase DNA-directed gamma (POLG) deficiency

3

Lactic acidosis

1

Carbohydrate metabolism

 

Glycerol kinase (GK) deficiency

1

Pompe disease

2

Others

 

Molybdenum cofactor deficiency

2

Isolated sulphite oxidase deficiency

1

Unknown disorders

14

Non-affected

3

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172