MeSH Browser

MeSH Supplementary: 2-Hydroxyglutaricaciduria
Unique ID: C535306
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C535306
Entry Term(s): 2-Hga; 2-Hydroxyglutaric Aciduria; Combined D-2- and L-2-hydroxyglutaric aciduria; D-2-HGA; D-2-Hydroxyglutaric Acidemia; D-2-hydroxyglutaric aciduria; D-2-hydroxyglutaric and L-2-hydroxyglutaric aciduria; L-2-HGA; L-2-Hydroxyglutaric Acidemia; L-2-hydroxyglutaric aciduria
Heading Mapped to: *Brain Diseases, Metabolic, Inborn
Frequency: 68
Note: 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 of Entry: 2010/06/25
Revision Date: 2022/11/02

2-Hydroxyglutaricaciduria MeSH Supplementary Concept Data 2024