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 |