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GTR Home > Conditions/Phenotypes > Phytanic acid storage disease


Excerpted from the GeneReview: Adult Refsum Disease
Adult Refsum disease (ARD is associated with elevated plasma phytanic acid levels, late childhood-onset (or later) retinitis pigmentosa, and variable combinations of anosmia, polyneuropathy, deafness, ataxia, and ichthyosis. Onset of symptoms ranges from age seven months to older than age 50 years. Cardiac arrhythmia and heart failure caused by cardiomyopathy are potentially severe health problems that develop later in life.

Genes See tests for all associated and related genes

  • Also known as: PBD9B, PTS2R, RCDP1, RD, PEX7
    Summary: peroxisomal biogenesis factor 7

  • Also known as: LN1, LNAP1, PAHX, PHYH1, RD, PHYH
    Summary: phytanoyl-CoA 2-hydroxylase

Clinical features


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