Refsum's disease
noun
Ref·sum's disease
ˈref-səmz- 
: an autosomal recessive lipidosis characterized by faulty metabolism of phytanic acid resulting in its accumulation in the blood, retinitis pigmentosa, ataxia, deafness, and intellectual disability
Cite this Entry
“Refsum's disease.” Merriam-Webster.com Medical Dictionary, Merriam-Webster, https://www.merriam-webster.com/medical/Refsum%27s%20disease. Accessed 4 Nov. 2025.
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