Refsum disease; phytanic acid oxidase deficiency; phytanic acid storage disease
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Introduction
see NINDS Refsum Disease Information Page
Pathology
- accumulation of the branched-chain fatty acid, phytanic acid, in blood & tissues
Genetics
Clinical manifestations
- retinitis pigmentosa
- peripheral neuropathy
- cerebellar ataxia
- less constant features include:
- nerve deafness
- anosmia
- skeletal abnormalities
- ichthyosis
- cataracts
- cardiac impairment
- manifestations of the disease appear in the 2nd or 3rd decade of life
Laboratory
- cerebrospinal fluid (CSF): elevated protein levels
More general terms
More specific terms
References
- ↑ Wikipedia: Refsum disease http://en.wikipedia.org/wiki/Refsum_disease
- ↑ Zalewska A; Schwartz RA; James WD Medscape: Refsum Disease http://emedicine.medscape.com/article/1114720-overview
- ↑ National Institute of Neurological Disorders and Stroke (NINDS) NINDS Refsum Disease Information Page https://www.ninds.nih.gov/Disorders/All-Disorders/Refsum-Disease-Information-Page