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.


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