D,L-2-hydroxyglutaric aciduria

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Synonyms: Combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia | Combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria | D,L-2-HGA | D,L-2-hydroxyglutaric acidemia

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version July 2024

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Advocacy Organizations

Mississippi Metabolics Foundation

Our mission at Mississippi Metabolics Foundation (MMF) is to advocate, educate, and support families in MS affected by genetic metabolic disorders/inborn errors of metabolism (IEM's). MMF promotes initiatives and further advancements in legislation, education, research, clinical trials, studies, therapies, targeted treatments, and eventual cures for IEM’s and all rare diseases.

Project CASK

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

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Clinical Trials

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