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D2HGA

D-2 Hydroxyglutaric Aciduria

(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

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

 
Stephanie & Jack Divin
  
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