Refsum Disease

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Refsum Disease is an autosomal recessive disorder of peroxisomes, resulting in the accumulation of phytanic acid in tissues.

Specifically, the disease is caused by defects in alpha-oxidation, which is needed to metabolize phytanic acid into pristanic acid. Classically, patients present with scaly skin, ataxia, cataracts/night blindness, and shortening of the fourth toe.

Find this Refsum Disease mnemonic and other Peroxisome Disorder Mnemonics among Pixorize's visual mnemonics for the USMLE Step 1 and NBME Shelf Exams.