| China |
Disease
|
Case |
30 hospitals
2049 samples |
Methylmalonic acidemia |
47 |
| Propionic acidemia |
2 |
| Multiple carboxylase deficiency |
1 |
| Maple syrup urine disease(MSUD) |
4 |
| Isovaleric acidemia |
1 |
| 3-hydroxy-3-methylglutaric aciduria |
0 |
| Glutaric aciduria type I |
3 |
| Hyperglycinuria |
2 |
| Dihydrolipoyl dehydrogenase(E3) deficiency |
0 |
| 2-hydroxyglutaric aciduria |
0 |
| Urea cycle disorder ( OTC) |
4 |
| Hyperphenylalaniemia (PKU) |
16 |
| Tyrosinemia |
2 |
| Fructose-1, 6-diphosphatase deficiency |
0 |
| Galactosemia |
2 |
| Canavan disease |
0 |
| 4-hydroxybutyric aciduria |
2 |
| lactose intolerance |
3 |
| lactic aciduria |
6 |
| Ketonuria |
37 |
| Dicarboxylic aciduria |
3 |
| Lysinuria |
1 |
| Fanconi Syndrome |
5 |
| Medium-chain acyl-CoA dehydrogenase deficiency(MCAD) |
1 |
| 2049sample/ 30 hospital |
24 |
142 |