Oxoglutaric aciduria

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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).

Clinical Trials

For a list of clinical trials in this disease area, please click here.