| Metadata | |
|---|---|
| ID | DOID:0111619 |
| Name | 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. https://ghr.nlm.nih.gov/condition/2-hydroxyglutaric-aciduria, https://www.ncbi.nlm.nih.gov/pubmed/10963100, https://www.ncbi.nlm.nih.gov/pubmed/23561848 |
| Xrefs |
SNOMEDCT_US_2023_03_01:713401006 |
| Subsets |
DO_rare_slim |
| Synonyms |
combined D,L-2-hydroxyglutaric aciduria [EXACT] combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia [EXACT] combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria [EXACT] D,L-2-HGA [EXACT] D,L-2-hydroxyglutaric acidemia [EXACT] D,L-2-hydroxyglutaric aciduria [EXACT] |
| Parent Relationships |