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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?
IRD is suspected on physical exam and definitively confirmed with biochemical evaluation. Prenatal screening of cultured amniocytes and chorionic villus sampling for VLCFA and plasmalogen synthesis is possible. The presence of phytanic acid in blood or urine samples helps in the diagnosis.
HOW IS INFANTILE REFSUM DISEASE TREATED?
Treatment of Refsum disease involves following a strict diet low in phytanic acid found in dairy products, beef, lamb and some seafoods and high in calories. The removal and reinfusion of blood plasma (plasmapheresis) may also be required. Other treatment is symptomatic and supportive.
DID YOU KNOW?
The life expectancy of people with this condition is generally 20 years.