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

(D2-HGA) D-2 Hydroxyglutaric Aciduria

D-2-hydroxyglutaric aciduria is a rare autosomal recessive organic aciduria with variable clinical expression. The biochemical defect is still unknown. There are two disorders that result in the build up of 2-hydroxyglutaric acid, these are D2-hydroxyglutaric aciduria and L2-hydroxyglutaric aciduria. They are separate unrelated diseases. In D2 hydroxyglutaric aciduria the actual enzyme that is deficient or absent is not currently known.

 

Meet Our Children With D2-HGA