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INFANTILE REFSUM DISEASE
Infantile Refsum disease (IRD) is characterized by a mutation in the genes responsible for development of peroxisomes, structures within cells that are responsible for the breakdown of fatty acids. As a result, fatty acids accumulate and impair the normal function of multiple organ systems. It is characterized by progressive loss of vision, degenerative nerve disease, failure of muscle coordination, and dry, rough, scaly skin
HOW IS INFANTILE REFSUM DISEASE DIAGNOSED?
Since infantile refsum disease is an inherited disorder prenatal screening that help to identify the alleles or genes that cause this disease can be conducted to prevent its occurrence.
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?
Affected individuals may experience an unusual burning or prickling sensation (paresthesia) of arms and legs. Neurological symptoms include unsteady walking with frequent falls, and peripheral neuropathy (characterized by sensory, motor, and reflex changes). Skin changes may include dryness, itching, and scaliness. An infantile form of Refsum disease exists that usually becomes apparent during the first year of life. In addition to early onset, it is characterized by developmental delay, vision and hearing impairment, enlargement of the liver and defective metabolism of bile acid.