Refsum's disease


Ref·​sum's disease ˈref-səmz- How to pronounce Refsum's disease (audio)
: 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

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“Refsum's disease.” Medical Dictionary, Merriam-Webster, Accessed 13 Apr. 2024.

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