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combined D-2- and L-2-hydroxyglutaric aciduria
Summary
- Synonym
-
- D,L-2-HGA
- D,L-2-hydroxyglutaric acidemia
- D,L-2-hydroxyglutaric aciduria
- 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
- 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.
- Super Class
- 2-hydroxyglutaric aciduria autosomal recessive disease
External Links
- Disease Ontology
- DOID:0111619
- Mondo Disease Ontology
- UMLS
- ORDO
- OMIM
