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Doctors for Infantile Refsum Disease in Mysore
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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?
Paediatricians conduct a complete physical examination of the child and evaluate symptoms. They also consider the family history. For confirming diagnosis, blood and urine tests are conducted to detect the presence of phytanic acid.
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?
There is a high risk of death here because of organic failures and similar complications though some infants are known to survive and sail through old age.