Refsum Disease Mnemonic
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.