Numbers of Test Result of High-risk Screening
for Inborn Error Metabolism (IEM) during 2002 from India
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


(c) 2003 MILS INTERNATIONAL. All Rights Reserved.