(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.
- Pub Med Description of D2-HGA
- Yahoo Group for D2-HGA
- Sabina's Website - child with D2HGA who passed away at 3 years old
|Meet Our Children With D2-HGA|