Organic Acidemia Metabolic Disorders

(MHBD) 2-Methyl-3-Hydroxybutyrl CoA Dehydrogenase deficiency

(2MBCD) 2-Methylbutyryl-CoA Dehydrogenase Deficiency

(HMG) 3-hydroxy-3 -methylglutaryl-CoA lyase deficiency

(3-MCC) 3-methylcrotonyl- CoA carboxylase deficiency

(MGA) 3-Methylglutaconic acidemia or 3-Methylglutaconyl-CoA Hydratase Deficiency

5-oxoprolinemia

(D2-HGA) D-2 Hydroxyglutaric Aciduria

(GA-I) Glutaryl CoA Dehydrogenase Deficiency Type I aka Glutaric Acidemia Type I

(ICBD) Isobutyryl-CoA Dehydrogenase Deficiency 3-Hydroxyisobutyric aciduria

(IVA) Isovaleryl CoA Dehydrogenase Deficiency aka Isovaleric Acidemia

(L2HGA) L-2-Hydroxy- glutaricaciduria

(MA) Malonyl-CoA Decarboxylase Deficiency aka Malonic Acidemia

(MMA) Methlymalonic Acidemia

(BKT) Mitochondrial Acetoacetyl CoA Thiolase- (3-Ketothiolase)

(MCD, holocarboxylase synthetase) Multiple carboxylase deficiency

(PA) Propionyl CoA Carboxylase Deficiency aka Propionic Acidemia

(HIBCH) 3-Hydroxyisobutyryl-CoA Hydrolase Deficiency

(ICBD) Isobutyryl-CoA Dehydrogenase Deficiency 3-Hydroxyisobutyric aciduria (IBD Deficiency)

In this condition there is an absence or a deficiency in an enzyme that is needed to breakdown proteins (amino acids), so the body is unable to use them for growth and repair. This is a disorder that affects the breakdown of the amino acid valine. The deficient or absent enzyme has not currently been determined though it is thought to possibly be 3-hydroxyisobutyryl CoA dehydrogenase.