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Definition

A rare autosomal recessive peroxisomal disorder characterized by the accumulation of the branched-chain fatty acid, phytanic acid, in blood and tissues. Cardinal clinical features are retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, and elevated protein levels in the cerebrospinal fluid (CSF). Half of all patients exhibit generalized, mild to moderate ichthyosis resembling ichthyosis vulgaris. Less constant features are nerve deafness, anosmia, skeletal abnormalities, cataracts and cardiac impairment.

Acronym

RD

Synonyms

Hereditary motor and sensory neuropathy IV
Heredopathia atactica polyneuritiformis
HMSN4
HMSN IV
Phytanic acid oxidase deficiency
Refsum's disease

Keywords

Deafness
Retinitis pigmentosa
Cataract
Peroxisome biogenesis disorder
Ichthyosis

 
Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice.

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