combined D-2- and L-2-hydroxyglutaric aciduria

Term ID

DOID:0111619

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

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. (3)

References

• OMIM:615182
• ORDO:356978
• SNOMEDCT_US_2023_03_01:713401006
• UMLS_CUI:C5574940

Ontology

Human Disease   ( DOID:0111619 )