D,L-2-hydroxyglutaric aciduria
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 April 2024
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D,L-2-hydroxyglutaric aciduria?
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Advocacy Organizations
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
FamilieSCN2A Foundation
"Families" is part of our name for a reason. Rare and devastating, SCN2A-related disorders affect the entire family. Our VISION is a world with effective treatments and cures for all SCN2A-related disorders. Our MISSION is to accelerate research, build community and advocate to improve the lives of those affected by SCN2A-related disorders around the world.
Genetic Epilepsy Team Australia
Collaboration of research and care
Louisiana Metabolic Disorders Coalition
We support, educate, and advocate for patients & families affected by metabolic disorders.
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.
Moonshots for Unicorns
Curing single-gene disorders
Organic Acidemia Association
Our mission is to empower families and health care professionals with knowledge in these disorders. We support early intervention through expanded newborn screening, solicit contributions, and distribute funding that supports research toward improved treatment, and eventual cures in the areas of Organic Acid disorders.
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.