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 September 2023.
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D,L-2-hydroxyglutaric aciduria?
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Advocacy Organizations
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.
FamilieSCN2A Foundation
We are an organization created by parents of children diagnosed with rare forms of Epilepsy and Autism as a result of a change in the SCN2A gene. Our vision is to find effective treatments and a cure for SCN2A related disorders. Our mission is to improve the lives of those affected by SCN2A related disorders through research, public awareness, family support and patient advocacy.
Moonshots for Unicorns
Curing single-gene disorders
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Genetic Epilepsy Team Australia
Collaboration of research and care
Mississippi Metabolics Foundation
Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).
Louisiana Metabolic Disorders Coalition
We support, educate, and advocate for patients & families affected by metabolic disorders.
Clinical Trials
For a list of clinical trials in this disease area, please click here.