combined D-2- and L-2-hydroxyglutaric aciduria (DOID:0111619)
Alliance: disease page
Synonyms: combined D,L-2-hydroxyglutaric aciduria; combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia; combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria; D,L-2-HGA; D,L-2-hydroxyglutaric acidemia; D,L-2-hydroxyglutaric aciduria
Alt IDs: OMIM:615182, ORDO:356978, UMLS_CUI:C5574940
Definition: A 2-hydroxyglutaric aciduria characterized by neonatal-onset encephalopathy with severe hypotonia, intractable seizures, respiratory distress, and lack of psychomotor development resulting in early death that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A1 gene on chromosome 22q11.21.