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

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

3-Methylglutaconic aciduria type I (250950) is an autosomal recessive disorder characterized clinically by various symptoms ranging from mild features, including delayed speech development and hyperchloremic acidosis associated with gastroesophageal reflux, to a more severe phenotype, including seizures and cerebellar abnormalities. The disorder is caused by deficiency of 3-methylglutaconyl-CoA hydratase, one of the key enzymes of leucine degradation. The enzyme deficiency results in elevated urinary levels of 3-methylglutaconic acid, 3-methylglutaric acid, and 3-hydroxyisovaleric acid. Fewer than 50 cases of this disorder have been identified.