pathology

Last reviewed 01/2018

In Refsum's disease the deficiency of the enzyme phytanic acid alpha hydroxylase results in abnormal metabolism of the long alcohol phyol.

Phytol is derived from chlorophyll. In Refsum's disease there is an accumulation of phytanic acid which causes predominantly neurological damage, although a cardiomyopathy is not uncommon.

Avoiding green foods containing chlorophyll may alleviate the disease.