Table 3.
Metabolic registry, biochemical genetics laboratory, IHG‐NIH from 1999 to 2016
| Disorder | No. Cases | |
|---|---|---|
| Amino acid disorders | 215 | |
| Maple syrup urine disease | 155 | |
| Hyperphenylalaninemia | 57 | |
| Phenylketonuria (25) | ||
| Mild hyperphenylalaninemia (24) | ||
| 6 Pyruvoyltetrahydropterin synthase deficiency (8) | ||
| Tyrosinemia I | 1 | |
| Non ketotic hyperglycinemia | 1 | |
| Homocystinuria | 1 | |
| Lysosomal storage disorders | 80 | |
| Mucopolysaccharidosis (MPS) | 57 | |
| MPS Type I (2) | ||
| MPS Type II (41) | ||
| MPS Type III‐B (1) | ||
| MPS Type IV (7) | ||
| MPS Type VI (2) | ||
| Unclassified (4) | ||
| Gaucher disease | 11 | |
| Pompe | 4 | |
| Fabry disease | 3 | |
| Mucolipidosis | 1 | |
| LSD – Multiple sulfatase deficiency | 1 | |
| Ceroid lipofuscinosis neuronal 2 | 1 | |
| Tay Sach's disease | 1 | |
| Niemann pick | 1 | |
| Galactosemia | 86 | |
| Classical | 18 | |
| Non‐classical | 68 | |
| Organic aciduria | 25 | |
| Methyl malonic aciduria (MMA) | 17 | |
| Glutaric aciduria type I | 4 | |
| Multiple carboxylase deficiency (MCD) | 2 | |
| L‐2‐Hydroxyglutaric aciduria | 1 | |
| 3‐Methylcrotonyl‐Coa carboxylase deficiency (3MCC) | 1 | |
| Urea cycle defects | 7 | |
| Argininosuccinate lyase deficiency syndrome (ASALD) | 1 | |
| Ornithine transcarbamylase (OTC) deficiency | 1 | |
| Carbamoyl phosphate synthase (CPS) deficiency | 5 | |
| Fatty acid oxidation disorders | 3 | |
| Very long chain acyl CoA dehydrogenase deficiency (VLCADD) | 2 | |
| Medium chain acyl CoA dehydrogenase deficiency (MCAD) | 1 | |
| Mitochondrial respiratory chain disorders | 3 | |
| MELAS | 2 | |
| Respiratory chain complex/deficiency | 1 | |
| Others | 36 | |
| Adrenoleukodystrophy (ALD) | 21 | |
| Homozygous cystinuria | 3 | |
| Heterozygous cystinuria | 9 | |
| Lowe syndrome | 1 | |
| Lesh nyhan disease | 1 | |
| Menkes | 1 | |
| Total | 455 | |