Table 1.
Incidence data for disease categories. Small-molecule disorders of IEM in SAMSO (1983-2008). Total population of live births (165 130).
| Disease category | Numbers of cases diagnosed | No. of families affected | Incidence rate/100 000 live births |
|---|---|---|---|
| Aminoacidopathies | 38 | 18 | 23 |
| Classic homocystinuria | 4 | 3 | 2 |
| NK hyperglycinemia | 1 | 1 | 1 |
| Biopterin biosynthesis defect | 4 | 3 | 2 |
| Classic PKU | 12 | 3 | 7 |
| Hepatorenal tyrosinemia | 5 | 1 | 3 |
| MSUD | 12 | 7 | 7 |
| Organic acidopathies | 48 | 29 | 29 |
| Propionic aciduria | 6 | 3 | 4 |
| Methyl malonic acidemia | |||
| Cobalamin B deficiency | 9 | 3 | 5 |
| Mutase deficiency | 2 | 2 | 1 |
| Unknown | 3 | 3 | 2 |
| Isovaleric aciduria | 6 | 3 | 4 |
| 3-Methylcrotonyl aciduria | 3 | 2 | 2 |
| 2-Hydroxyglutaric aciduria | 8 | 4 | 5 |
| Glutaric aciduria type I | 3 | 2 | 2 |
| Multiple carboxylase deficiency | 2 | 3 | 1 |
| Biotinidase deficiency | 3 | 3 | 2 |
| Canavan disease | 3 | 1 | 2 |
| Urea cycle disorders | 12 | 4 | 7 |
| Citrullinemia | 6 | 2 | 4 |
| Argininosuccinase deficiency | 6 | 2 | 4 |
| Fatty acid oxidation disorders | 18 | 9 | 11 |
| SCAD deficiency | 4 | 2 | 2 |
| MCAD deficiency | 2 | 1 | 1 |
| LCHAD deficiency | 1 | 1 | 1 |
| CPT I deficiency | 2 | 1 | 1 |
| CPT II deficiency | 4 | 1 | 2 |
| CACT deficiency | 3 | 1 | 2 |
| Carnitine uptake defect | 2 | 2 | 1 |
| Carbohydrate disorders | 16 | 10 | 10 |
| Galactosemia | 16 | 10 | 10 |
| Serine deficiency | 2 | 1 | 1 |
| 3 PGD deficiency | 2 | 1 | 1 |
NK: nonketotic; PKU: phenylketonuria; MSUD: maple syrup urine disease; SCAD: small-chain acyl-coenzyme A dehydrogenase; MCAD: medium-chain acyl-coenzyme A dehydrogenase; LCHAD: long-chain 3-hydroxyacyl co-enzyme A dehydrogenase; CPT: carnitine palmitoyl transferase; CACT: carnitine-acylcarnitine translocase; PGD: phosphoglycerate dehydrogenase.