Refsum disease, also known as classic or adult Refsum disease, heredopathia atactica polyneuritiformis, phytanic acid oxidase deficiency and phytanic acid storage disease, is an autosomal recessive neurological disease that results from the over-accumulation of phytanic acid in cells and tissues. It is one of several disorders named after Norwegia...
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http://en.wikipedia.org/wiki/Refsum_disease
A chronic progressive peripheral neuropathy which is probably inherited in an autosomal recessive manner. Some of the manifestations of this disorder are atypical retinitis pigmentosa, cerebellar ataxia, and increased cerebrospinal protein levels. Excessive phytanic acid storage has been found in most cases. Onset of symptoms usually occurs in earl...
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http://www.encyclo.co.uk/local/20973
(ref´soom) an autosomal recessive disorder of lipid metabolism in which deficiency of phytanic acid α-hydroxylase results in accumulation of phytanic acid; it is manifest chiefly by chronic polyneuritis, retinitis pigmentosa, cerebellar ataxia, and persistent elevation of protein in cerebrospinal fluid; there...
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http://www.encyclo.co.uk/local/21001
Type: Term Pronunciation: ref′sūm Definitions: 1. a rare degenerative disorder due to a deficiency of phytanic acid α-hydroxylase; clinically characterized by retinitis pigmentosa, ichthyosis, demyelinating polyneuropathy, deafness, and cerebellar signs; autosomal recessive inheritance caused by mutation in the gene encoding phytano...
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http://www.medilexicon.com/medicaldictionary.php?t=25755
Refsum disease: A genetic disorder affecting the metabolism of the fatty acid phytanic acid. When phytanic acid accumulates, it causes a number of progressive problems, including inflammation of numerous nerves (polyneuritis), diminishing vision due to retinitis pigmentosa, and wobbliness (ataxia) caused by damage to the cerebellar portion of the b...
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http://www.medterms.com/script/main/art.asp?articlekey=5276
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