Oxoglutaric aciduria
Synonyms: Alpha-ketoglutarate dehydrogenase deficiency
A rare genetic inborn error of metabolism disorder characterized by neonatal-onset of developmental delay hypotonia hepatomegaly lactic acidemia increased creatine kinase levels elevated alpha-ketoglutaric acid in urine and a decreased plasma beta-hydroxybutyrate-to-acetoacetate ratio. Pyruvate dehydrogenase deficiency can be associated leading to hypoglycemia and neurologic anomalies including seizures.
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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Oxoglutaric aciduria?
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Advocacy Organizations
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.
Charcot-Marie-Tooth Association
To develop drugs to treat or cure CMT and to help improve the quality of life for those living with CMT.
Genetic Epilepsy Team Australia
Collaboration of research and care
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
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.
Clinical Trials
For a list of clinical trials in this disease area, please click here.