Table 4.
Number of patients with metabolic disorders at the Biochemical Genetics Laboratory, IHG-NIH from 1999 to 2011
| Condition | Number of cases |
|---|---|
| Amino acid disorders | |
| Maple syrup urine disease | 101 |
| Phenylketonuria | 17 |
| Hyperphenylalaninemia | 10 |
| Heterozygous cystinuria | 9 |
| 6-Pyruvoyltetrahydropterin synthase deficiency | 4 |
| Homozygous cystinuria | 3 |
| Homocystinuria | 1 |
| Tyrosinemia | 1 |
| Urea cycle disorders | |
| Carbamoyl phosphate synthase deficiency | 4 |
| Ornithine transcarbamoylase deficiency | 3 |
| Citrullinemia | 1 |
| Arginosuccinate lyase deficiency syndrome | 1 |
| Organic acid disorders | |
| Methylmalonic aciduria | 15 |
| Glutaric aciduria type I | 2 |
| Holocarboxylase synthase deficiency | 1 |
| Mitochondrial diseases | |
| Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke (MELAS) syndrome | 2 |
| Respiratory chain complex deficiency | 1 |
| Peroxisomal Disorders | |
| Adrenoleukodystrophy | 11 |
| Lysosomal Storage Disorders | |
| Mucopolysaccharidosis | 36 |
| Gaucher disease | 10 |
| Pompe disease | 3 |
| Multiple sulfatase deficiency | 1 |
| Niemann–Pick disease | 1 |
| Mucolipidosis | 1 |
| Tay–Sach’s disease | 1 |
| Purine-pyrimidine Metabolism Disorders | |
| Lesch–Nyhan disease | 1 |
| Others | |
| Non-classical galactosemia | 18 |
| Classical galactosemia | 5 |
| Lowe syndrome | 1 |
| Menkes disease | 1 |