Infantile Refsum disease is an inborn error in the way phytanic acid is processed or metabolised in the body. Children with this disorder would display poor muscle coordination, mental disabilities, abnormal facial features and hearing loss
HOW IS INFANTILE REFSUM DISEASE DIAGNOSED?
The diagnosis of the condition depends on determination of plasma VLCFA, phytanic and pipecolic acids. A condition of paediatrics, it is generally present from birth as it is a genetic disorder.
HOW IS INFANTILE REFSUM DISEASE TREATED?
Treatment of Infantile Refsum Disease aims at following dietary restrictions that limit the consumption of diet that is rich in phytanic acid, like dairy products, beef, sea foods and lamb. In some cases the removal and reinfusion of blood plasma may be required
DID YOU KNOW?
Infantile Refsum Disease becomes more apparent during first year of life.