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Doctors for Abetalipoproteinemia in Belavanki, Hubli-Dharwad
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Abetalipoproteinemia is an inherited autosomal recessive trait which thwarts the body’s ability to metabolize some dietary fats. Children suffering from Abetalipoproteinemia have delays in developmental milestone and problems with balance, concentration and dexterity. Some other symptoms of Abetalipoproteinemia are curvature of the spine, speech disorders, and vision problem and muscle weakness amongst others.
HOW IS ABETALIPOPROTEINEMIA DIAGNOSED?
Genetic blood testing and metabolic blood testing are common diagnostic measures for Abetalipoproteinemia. Deficiencies in Vitamin A, D, E and K are extremely common in Abetalipoproteinemia. Electromyography, stool test and an eye exam are other measures to diagnose Abetalipoproteinemia. Diagnosing Abetalipoproteinemia is not very easy and may take several visits to the general physician and multiple tests for a conclusive result.
HOW IS ABETALIPOPROTEINEMIA TREATED?
Treatment consists of rigorous dieting and an increased intake of Vitamin E. Additionally, physiotherapy or occupational therapy along with dietary restriction of triglycerides can be useful.
DID YOU KNOW?
Abetalipoproteinemia is usually an inherited condition that is passed down genetically.