Medicine & USMLE

Refsum Disease

  1. Zellweger Syndrome
  2. Adrenoleukodystrophy
  3. Refsum Disease

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.