Fumaric aciduria: A rare inborn metabolic error where a deficiency of the enzyme fumarase due to a genetic defect impairs the body's ability to break down fumarate into malate which results in increased fumaric acid levels in the urine. More detailed information about the symptoms, causes, and treatments of Fumaric aciduria is available below.
See full list of 10 symptoms of Fumaric aciduria
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Read more about causes of Fumaric aciduria.
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Fumaric aciduria is listed as a "rare disease" by the Office of
Rare Diseases (ORD) of the National Institutes of Health
(NIH). This means that Fumaric aciduria, or a subtype of Fumaric aciduria,
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 Fumaric aciduria as a "rare disease".
Source - Orphanet
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