Fumaric Aciduria

Common Name(s)

Fumaric Aciduria, Fumarase deficiency

Fumarase deficiency is an inherited condition that primarily affects the nervous system, especially the brain. Affected infants may have an abnormally small head size (microcephaly), abnormal brain structure, severe developmental delay, weak muscle tone (hypotonia), failure to thrive, seizures, and unusual facial features. Others may have an enlarged liver and spleen (hepatosplenomegaly), an excess of red blood cells (polycythemia), and/or or deficiency of white blood cells (leukopenia) in infancy. Affected individuals usually survive only a few months, but a few have lived into early adulthood. This condition is caused by mutations in the FH gene and is inherited in an autosomal recessive fashion.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Fumaric Aciduria" for support, advocacy or research.

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General Support Organizations

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Scientific Literature

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Research articles describe the outcome of a single study. They are the published results of original research.
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.