Features include always present findings: Bilateral tonic-clonic seizure, Elevated CSF D-2-hydroxyglutaric acid concentration, Global developmental delay, and D-2-hydroxyglutaric aciduria; and common findings: Hypsarrhythmia, Low muscle tone (hypotonia), Myoclonic seizure, and Infantile spasms and others. 28 total HPO annotations.

D2HGDH encodes D-2-hydroxyglutarate dehydrogenase (521 aa). Catalyzes the oxidation of D-2-hydroxyglutarate (D-2-HG) to alpha-ketoglutarate. Also catalyzes the oxidation of other D-2-hydroxyacids, such as D-malate (D-MAL) and D-lactate (D-LAC). Highest expression in Thyroid (77.7 TPM) and Pituitary (68.0 TPM).

D-2-hydroxyglutaric aciduria 1 is associated with mutations in the D2HGDH gene on chromosome 2.

The D2HGDH protein participates in Interconversion of 2-oxoglutarate and 2-hydroxyglutarate and Unknown enzyme(s) process 4-HMA to 4-Hbz pathways.

D2HGDH is classified as a druggable target (Enzyme category) with score 0.0.

Genetic testing for D2HGDH is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 4 always present features, 9 common features.

No clinical trials have been registered for D-2-hydroxyglutaric aciduria 1.

10 publications have been identified in PubMed for D-2-hydroxyglutaric aciduria 1. Research spans Case Report / Case Series (40%), Basic Science / Preclinical (40%), and Review / Meta-Analysis (10%).