Refsum disease (RD) is an inherited condition of the autosomal recessive trait. It occurs because of the increase in the levels of phytanic acid in the plasma and tissues of the body. This condition is a neurocutaneous syndrome and affects patients in whom phytanoyl-CoA hydroxylase (PhyH) does not function efficiently, resulting in the accumulation of the phytanic acid. It causes alteration of peroxisome assembly, various peroxisomal enzyme deficiencies, multifaceted developmental sequelae, and disabilities. The various signs of this condition are cataract, Nystagmus, Retinitis pigmentosa, Anosmia, deafness, increasing weakness and the loss of balance. Some patients suffering from Refsum disease may also experience defects of the enamel.
HOW IS REFSUM DISEASE DIAGNOSED?
The Refsum disease (RD) was first talked about in 1946