India |
Disease
|
Case |
496 samples |
Methylmalonic acidemia |
14 |
Propionic acidemia |
8 |
Multiple carboxylase deficiency |
1 |
Maple syrup urine disease(MSUD) |
2 |
Isovaleric acidemia |
1 |
3-hydroxy-3-methylglutaric aciduria |
3 |
Glutaric aciduria type I |
5 |
Hyperglycinuria |
1 |
Dihydrolipoyl dehydrogenase(E3) deficiency |
1 |
2-hydroxyglutaric aciduria |
1 |
Urea cycle disorder ( OTC) |
3 |
Hyperphenylalaniemia (PKU) |
1 |
Tyrosinemia |
2 |
Fructose-1, 6-diphosphatase deficiency |
3 |
Galactosemia |
2 |
Canavan disease |
3 |
4-hydroxybutyric aciduria |
0 |
lactose intolerance |
3 |
lactic aciduria |
55 |
Ketonuria |
7 |
Dicarboxylic aciduria |
2 |
Lysinuria |
0 |
Fanconi Syndrome |
3 |
Medium-chain acyl-CoA dehydrogenase deficiency(MCAD) |
0 |
Sum |
24
|
121 |