2-Hydroxyglutaricaciduria

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).

Also Known As:

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

Nervous System Diseases: 14178
- Central Nervous System Diseases: 4213
  - Brain Diseases: 15694
    - Metabolic Brain Diseases: 215
      - Inborn Metabolic Brain Diseases: 2
        2-Hydroxyglutaricaciduria: 119
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Inborn Errors Metabolism: 1162
    - Inborn Metabolic Brain Diseases: 2
      - 2-Hydroxyglutaricaciduria: 119
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Inborn Errors Metabolism: 1162
    - Inborn Metabolic Brain Diseases: 2
      - 2-Hydroxyglutaricaciduria: 119
  - Metabolic Brain Diseases: 215
    - Inborn Metabolic Brain Diseases: 2
      - 2-Hydroxyglutaricaciduria: 119

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