D-2-hydroxyglutaric aciduria
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Epidemiology
rare
Genetics
- autosomal recessive
- associated with defects in D2HGDH gene
Clinical manifestations
- developmental delay
- epilepsy
- hypotonia
- dysmorphic features
- both a mild & a severe phenotype exis
- severe phenotype homogeneous
- early infantile-onset epileptic encephalopathy & cardiomyopathy
- mild phenotype - more variable clinical presentation
- diagnosis based on presence of excess of D-2-hydroxyglutaric acid in the urine