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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?
It can be diagnosed in one of the following ways:• Diagnostic Tests• Drug Therapy• Genetic Counseling and Rehabilitation• Surgery
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?
A child suffering from Abetalipoproteinemia has a defective gene each from both parents to get the condition.