has material basis in germline mutation in
SLC25A1
D,L-2-hydroxyglutaric aciduria
OMIM:615182
UMLS:C5574940
D,L-2-hydroxyglutaric acidemia
combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria
ICD9:270.8
D,L-2-HGA
GARD:17540
D,L-2-hydroxyglutaric aciduria is a rare inborn error of metabolism characterized by severe neonatal epileptic encephalopathy, episodes of apnea and respiratory distress, severe global developmental delay or absent psychomotor development, severe muscular hypotonia or absent voluntary movements, feeding difficulties and failure to thrive, absence of visual contact, abnormal brain morphology (including cerebral atrophy, ventriculomegaly and hypoplasia or dysplasia of the corpus callosum), mild dysmorphic features (frontal bossing, hypertelorism, downslanting palpebral fissures, flat nasal bridge), elevated CSF and plasma lactate and urinary Krebs cycle metabolites.
Orphanet:356978
SCTID:713401006
combined D-2- and L-2-hydroxyglutaric aciduria
D2L2AD
DOID:0111619
D,L-2-hydroxyglutaric aciduria
MONDO:0014072
combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia
2-hydroxyglutaric aciduria