2-Hydroxyglutaricaciduria [Supplementary Concept]
Hereditary neurometabolic disorders characterized by DEVELOPMENTAL DELAY; EPILEPSY; HYPOTONIA, and dysmorphic features. Severe cases of D2HGA are homogeneous and are characterized by early infantile-onset epileptic encephalopathy and, CARDIOMYOPATHY. The mild phenotype has a more variable clinical presentation. In L2HGA, patients may also present with ATAXIA; MEGALENCEPHALY, and speech difficulties and the condition deteriorates over time. Mutations in the D2HGDH gene have been identified for D2HGA (OMIM: 600721) and the L2HGDH gene for L2HGA (OMIM: 236792).
Date introduced: June 25, 2010
MeSH Unique ID: C535306
Heading Mapped to:
Entry Terms:
- 2-Hga
- 2-Hydroxyglutaric Aciduria
- D-2-hydroxyglutaric aciduria
- D-2-HGA
- D-2-Hydroxyglutaric Acidemia
- L-2-hydroxyglutaric aciduria
- L-2-HGA
- L-2-Hydroxyglutaric Acidemia
- Combined D-2- and L-2-hydroxyglutaric aciduria
- D-2-hydroxyglutaric and L-2-hydroxyglutaric aciduria