isovalemic acidemia; LCHADD, long chain 3-chydroxy-acyl-CoA dehydrogenase deficiency; MCADD, medium chain acyl-CoA dehydrogenase deficiency; MMA, methylmalonic acidemia; NAGS, N-acetylglutamate ...

These are Maple Syrup Urine Disease, Methylmalonic Acidemia/Propionic Acidemia, Galactosemia, Phenylketonuria, Gaucher Disease, Pompe Disease, Fabry Disease, MPS II (Hunter Syndrome), MPS IV ...

Among the diseases included are maple syrup urine disease, Methylmalonic acidemia/propionic acidemia, galactosemia, phenylketonuria, gaucher disease, pompe disease, fabry disease, Hunter syndrome ...

Mrs Zeb said her son had been born with methylmalonic acidemia - a genetic disorder where the body cannot break down certain parts of proteins and fats - as well as additional sight and learning ...