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INFANTILE REFSUM DISEASE
Infantile Refsum disease is a rare disease affecting less than 200,000 people in the US. The condition is characterized by reduction in the peroxisomes in the body, which are responsible for removing toxic substances from the body. The condition also causes accumulation of phytanic acid in blood plasma and tissue. This genetic disorder affects the growth of myelin sheath on the nerve fibers. The symptoms of the condition include visual or hearing impairment along with developmental delay, facial abnormalities and hepatomegaly.
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?
There is actually no cure or treatment available for this problem. On the whole, patients suffering from this are given antibiotics and supplements to keep immunity levels high and thus prevent the risks of infection, along with symptomatic and supportive care.
DID YOU KNOW?
Infantile Refsum Disease becomes more apparent during first year of life.