Refsum's disease


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Related to Refsum's disease: phytanic acid storage disease, Zellweger syndrome

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.

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.

disease

pathogenic entity characterized by an identifiable aetiological agent, group of signs and symptoms and/or consistent anatomical alterations; see syndrome
CMT disease type IV; Refsum's disease very rare autosomal-recessive disorder, presenting in early life as retinitis pigmentosa, peripheral neuropathy and cerebellar ataxia; characterized by progressive distal neuropathy, developmental pes cavus, footdrop, mobility and coordination problems