Refsum's disease

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Refsum's disease

Phytanic acid oxidase deficiency An AR degenerative disorder caused by a defect in phytanic acid metabolism, resulting in fatty acid accumulation Clinical Chronic polyneuropathy, retinitis pigmentosa, cerebellar ataxia, EKG changes, nerve deafness, ichthyosis. See Phytanic acid.
McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.

Refsum's disease

A rare autosomal recessive degenerative disorder due to a gene mutation on chromosome 10 that causes a deficiency of the enzyme phytanoyl-CoA hydroxylase. The disease features widespread demyelination of nerves, RETINITIS PIGMENTOSA with hight blindness, ICHTHYOSIS of the skin, loss of the sense of smell, deafness, and poor balance from cerebellar dysfunction. Infantile Refsum disease is caused by a mutation of the gene on chromosome 7 for phytanic acid alpha-hydroxylase. It features impaired peroxisomal function with accumulation of phytanic acid and other substances.
Collins Dictionary of Medicine © Robert M. Youngson 2004, 2005