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Journal of the American Podiatric Medical Association, Vol 88, Issue 8 406-409, Copyright © 1998 by American Podiatric Medical Association

JOURNAL ARTICLE

Refsum's disease. A unique case

DF Jaffe, KS Crezee, S Mason, T Leavens-Chiarelli and W Lawrence
Phoenix Veterans Affairs Medical Center, AZ, USA.

Refsum's disease, or heredopathia atactica polyneuritiformis, is a peroxisomal disorder leading to the accumulation of phytanic acid throughout the body. It affects sensory and motor neurons and the skeletal system. Peripheral neuropathy, ataxia, blindness, deafness, and skeletal hyperostosis are significant findings used in the diagnosis of the disease.




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Copyright © 1998 by the American Podiatric Medical Association.