Refsum disease

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

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.

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.

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