Conditions / Genetic

D-2-hydroxyglutaric aciduria 1

info · Genetic

A D-2-hydroxyglutaric aciduria that has_material_basis_in homozygous or compound heterozygous mutation in D2HGDH on 2q37.3.

Signs and symptoms

  • Bilateral tonic-clonic seizure
  • Elevated CSF D-2-hydroxyglutaric acid concentration
  • Global developmental delay
  • D-2-hydroxyglutaric aciduria
  • Hypsarrhythmia
  • Delayed CNS myelination
  • Seizure
  • Hypotonia
  • Glutaric aciduria
  • Myoclonic seizure

Also known as: D2HGA1