| 1 |
2-Methyl-3-hydroxybutyric aciduria (2M3HBA) |
|
|
|
| 2 |
2-Methylbutyrylglycinuria (2MBG) |
|
|
|
| 3 |
3-Hydroxy-3-methyglutaric aciduria (HMG) |
|
|
|
| 4 |
3-Methylcrotonyl-CoA carboxylase deficiency (3-MCC) |
|
|
|
| 5 |
3-Methylglutaconic aciduria (3MGA) |
|
|
|
| 6 |
Beta-Ketothiolase deficiency (bKT) |
|
|
|
| 16 |
Ethylmalonic encephalopathy (EMA) |
|
|
|
| 17 |
Formiminoglutamic acidemia (FIGLU) |
|
|
|
| 7 |
Glutaric acidemia type I (GA-1) |
|
|
|
| 9 |
Isobutyrylglycinuria (IBG) |
|
|
|
| 10 |
Isovaleric acidemia (IVA) |
|
|
|
| 11 |
Malonic acidemia (MAL) |
|
|
|
| 12 |
Methylmalonic acidemia (cobalamin disorders) (CblA,B) |
|
|
|
| 13 |
Methylmalonic acidemia (methylmalonyl-CoA mutase) (MUT) |
|
|
|
| 14 |
Methylmalonic acidemia with homocystinuria (Cbl C,D) |
|
|
|
| 8 |
Multiple carboxylase deficiency (MCD) |
|
|
|
| 18 |
Primary lactic acidemia (LACTIC) |
|
|
|
| 15 |
Propionic acidemia (PROP) |
|
|
|
| 19 |
Succinyl-CoA ligase deficiency (SUCLA2) |
|
|
|