What is another word for Refsum Disease?

Pronunciation: [ɹɪfsˈʌm dɪzˈiːz] (IPA)

Refsum disease, also known as heredopathia atactica polyneuritiformis, is a rare genetic disorder that affects multiple organs. The disease is characterized by the accumulation of a fatty acid called phytanic acid, which can cause nerve damage, muscle weakness, and vision and hearing loss. There are no known cures for Refsum disease, but treatment options include diet changes to limit the intake of phytanic acid and the use of certain medications to manage symptoms. Other synonymous terms used for Refsum disease include phytanic acid storage disease, phytanic acid oxidase deficiency, and peroxisomal disorder. These synonyms can be useful for patients and healthcare providers searching for information about the disease.

Synonyms for Refsum disease:

What are the hypernyms for Refsum disease?

A hypernym is a word with a broad meaning that encompasses more specific words called hyponyms.
  • Other hypernyms:

    Peroxisomal Disorders, metabolic disorders, rare diseases, inherited neuropathy.

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