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Refsum disease; phytanic acid oxidase deficiency; phytanic acid storage disease
see NINDS Refsum Disease Information Page
Pathology:
- accumulation of the branched-chain fatty acid, phytanic acid, in blood & tissues
Genetics:
- associated with defects in PEX7
- associated with defects in PHYH
Clinical manifestations:
1) retinitis pigmentosa
2) peripheral neuropathy
3) cerebellar ataxia
4) less constant features include:
a) nerve deafness
b) anosmia
c) skeletal abnormalities
d) ichthyosis
e) cataracts
f) cardiac impairment
5) manifestations of the disease appear in the 2nd or 3rd decade of life
Laboratory:
- cerebrospinal fluid (CSF): elevated protein levels
Related
phytanic acid
phytanoyl-CoA dioxygenase, peroxisomal; phytanic acid oxidase; phytanoyl-CoA alpha-hydroxylase; phyH (PHYH, PAHX)
Specific
Refsum disease infantile form
General
leukodystrophy
peroxisomal disorder
Properties
ACCUMULATION: phytanic acid
DEFICIENCY: phytanoyl-CoA dioxygenase, peroxisomal
Database Correlations
OMIM 266500
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