Alpha-ketoglutarate dehydrogenase deficiency: A metabolic disorder characterized by a deficiency of Alpha-ketoglutarate dehydrogenase which results in high levels of oxoglutaric acid in the urine as well as other severe symptoms. More detailed information about the symptoms, causes, and treatments of Alpha-ketoglutarate dehydrogenase deficiency is available below.
See full list of 19 symptoms of Alpha-ketoglutarate dehydrogenase deficiency
Read more about causes of Alpha-ketoglutarate dehydrogenase deficiency.
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Read more about Misdiagnosis and Alpha-ketoglutarate dehydrogenase deficiency
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Types of Alpha-ketoglutarate dehydrogenase deficiency
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Alpha-ketoglutarate dehydrogenase deficiency is listed as a "rare disease" by the Office of
Rare Diseases (ORD) of the National Institutes of Health
(NIH). This means that Alpha-ketoglutarate dehydrogenase deficiency, or a subtype of Alpha-ketoglutarate dehydrogenase deficiency,
affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)
Ophanet, a consortium of European partners,
currently defines a condition rare when it affects 1 person per 2,000.
They list Alpha-ketoglutarate dehydrogenase deficiency as a "rare disease".
Source - Orphanet
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