Causes of Refsum disease

Adult Refsum disease (ARD) is a rare genetic disease that causes weakness or numbness of the hands and feet (peripheral neuropathy). Due to a genetic abnormality, people with ARD disease lack the enzyme in peroxisomes that break down phytanic acid, a type of fat found in certain foods. As a result, toxic levels of phytanic acid build up in the brain, blood, and other tissues.

Source: NINDS (NIH)1

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Genetics of Refsum disease

Refsum disease is inherited as a recessive trait. ...Source: NCBI, Genes and Disease (NCBI/NIH)2 ...

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  1. Source: NINDS (NIH): disorders/ refsum/ refsum.htm
  2. Source: NCBI, Genes and Disease (NCBI/NIH): books/ NBK22208/ 

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