D-2-hydroxyglutaric aciduria

D-2-hydroxyglutaric aciduria is a form of 2-hydroxyglutaric aciduria, but is much rarer and is distinguished by the high concentration of D-2-hydroxyglutaric acid in plasma, urine and cerebrospinal fluid.

The expression of the disease varies greatly, ranging from neonatal epileptic encephalopathy to hypotonia and facial dysmorphism with flat face and malformed ears. A general delayed development is also usually present.

The exact cause of the disease is not yet known, but mutations in the D2HGDH gene and IDH2 gene are known to be significant in the occurance of the disease. The inheritance is autosomal recessive.