Infantile Refsum Disease and its Treatment

Infantile Refsum disease (IRD) also called infantile phytanic acid storage disease is a rare autosomal recessive congenital peroxisomal biogenesis disorder(PBD).First it was discovered by Norwegian neurologist, Sigvald Refsum. Refsum disease also has a Latin name, heredopathia atactica polyneuritiformis, meaning a hereditary disease affecting balance and the peripheral nerves. There are four types of PBDs -Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD) and rhizomelic chondrodysplasia punctata (RCDP).Mainly it occurs due to elevated plasma concentration of phytanic acid. Blood levels of phytanic acid are increased in patients with Refsum disease. These levels are 10–50 mg/dL, whereas normal values are less than or equal to 0.2 mg/dL. Some of the causes of this disease are muscle conditions,brain conditions, genetic variations. The main symptoms are Visual impairments,Retinitis pigmentosa and hearing impairments. IRD is definitively confirmed with biochemical evaluation. Diagnosis of IRD before birth is possible by genetic testing. the main differential diagnoses include Usher syndrome I and II. The main complication of this disease is Cardiac involvement i.e. produce conduction abnormalities and cardiomyopathy has been associated with premature death. Mainly it is treated by dietary restriction. Another common approach is in supplementing the child's diet with docosahexaenoic acid (DHA).