Tuesday, April 14, 2015

Study group discussion: Refsums disease

Ataxia + Ichthyosis + Retinitis pigmentosa  + Don't drink milk.

Associated with which inherited autosomal recessive condition?

Refsums disease.

It's a rare AR disease.. The signs and symptoms of Refsum disease result from the abnormal buildup of a type of fatty acid called phytanic acid. This substance is obtained from the diet, particularly from beef and dairy products. It is normally broken down through a process called alpha-oxidation, which occurs in cell structures called peroxisomes.

Milk, cabbage etc. contain phytanic acid. That's why, they should be avoided.


  1. Please add this to the list under bioc..easier to look up then..


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