D,L-2-hydroxyglutaric aciduria- MedGen UID:
- 1802316
- •Concept ID:
- C5574940
- •
- Disease or Syndrome
Combined D-2- and L-2-hydroxyglutaric aciduria (D2L2AD) is an autosomal recessive neurometabolic disorder characterized by neonatal-onset encephalopathy with severe muscular weakness, intractable seizures, respiratory distress, and lack of psychomotor development resulting in early death. Brain imaging shows abnormalities including enlarged ventricles, delayed myelination, and germinal layer cysts (Muntau et al., 2000).
See also isolated L-2-hydroxyglutaric aciduria (236792) and isolated D-2-hydroxyglutaric aciduria (see 600721).