Version: 8.0.0
Date: Tue Jan 28 2025
combined D-2- and L-2-hydroxyglutaric aciduria
DOID:0111619
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

combined D-2- and 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.
Synonyms
  • combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia
  • combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria
Cross References
Parent Terms
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