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Refsum disease

Pronunciation: ref'sum

Definition: a rare degenerative disorder due to a deficiency of phytanic acid a-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

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.