Refsum disease
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Ref·sum dis·ease
(ref'sūm), [MIM*266500]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 phytanoyl-CoA hydroxylase (PAHX or PHYH) on chromosome 10p. Infantile Refsum disease [MIM*266510] is an impaired peroxisomal function with accumulation of phytanic acid, pipecolic acid; autosomal recessive inheritance, caused by mutation in the PEX 1 gene on 7q.
Synonym(s): heredopathia atactica polyneuritiformis, Refsum syndrome
Farlex Partner Medical Dictionary © Farlex 2012
Refsum disease
(rĕf′səm)n.
A rare autosomal recessive disorder in which an enzyme deficiency causes accumulation of phytanic acid in tissues, leading to retinitis pigmentosa, anosmia, and often ataxia, polyneuropathy, and other conditions.
The American Heritage® Medical Dictionary Copyright © 2007, 2004 by Houghton Mifflin Company. Published by Houghton Mifflin Company. All rights reserved.
Ref·sum dis·ease
(ref'sŭm di-zēz')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 phytanoyl-CoA hydroxylase (PAHX or PAYH) on chromosome 10p. Infantile Refsum disease is an impaired peroxisomal function with accumulation of phytanic acid and pipecolic acid; autosomal recessive inheritance caused by mutation in the PEX 1 gene on 7q.
Medical Dictionary for the Health Professions and Nursing © Farlex 2012
Refsum,
Sigvald, Bernhard Norwegian neurologist, 1907-1991.Refsum disease - a rare hereditary degenerative disorder characterized by retinitis pigmentosa, demyelinating polyneuropathy, deafness, nystagmus, and cerebellar signs. Synonym(s): heredopathia atactica polyneuritiformis; Refsum syndrome
Refsum syndrome - Synonym(s): Refsum disease
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