Details of Disease

General Information of Disease (ID: DISYBXFL)

• Disease Name: D,L-2-hydroxyglutaric aciduria
• Synonyms: combined D-2- and L-2-hydroxyglutaric aciduria; D2L2AD; D,L-2-hydroxyglutaric aciduria; combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia; D,L-2-hydroxyglutaric acidemia; D,L-2-HGA; combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria
• Definition: 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.
• Disease Hierarchy:
  DIS4P821: 2-hydroxyglutaric aciduria
  DISYBXFL: D,L-2-hydroxyglutaric aciduria
• Disease Identifiers:
  MONDO ID: MONDO_0014072
  MESH ID: C535306
  UMLS CUI: C5574940
  OMIM ID: 615182
  MedGen ID: 1802316
  Orphanet ID: 356978
  SNOMED CT ID: 713401006

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC25A1	DTWU7OK	Strong	Autosomal recessive	[1]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SLC25A1	OTIDXQ9F	Strong	Autosomal recessive	[1]

References

• [1] Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria. Am J Hum Genet. 2013 Apr 4;92(4):627-31. doi: 10.1016/j.ajhg.2013.03.009.