Symptoms of Abetalipoproteinemia, which is disorder to absorb fat from food, generally found in kids, include abnormal growth pattern, unusual curvature of spine, weakened muscles, problems in keeping balance and coordination, protruding abdomen, slurred speech, irregular and foul smelling stools.
HOW IS ABETALIPOPROTEINEMIA DIAGNOSED?
Metabolic testing and checking for deficiency of Vitamin A, D, E and K along with genetic testing, stool test, eye exam and electromyography are some common means to diagnose Abetalipoproteinemia. It is very difficult to diagnose Abetalipoproteinemia and needs multiple tests and visit to the general physician - just for a diagnosis.
HOW IS ABETALIPOPROTEINEMIA TREATED?
Dietary supplements which include fat soluble vitamins in high doses and others form part of traditional treatment of Abetalipoproteinemia. People suffering from Abetalipoproteinemia also need to take care of their diet.
DID YOU KNOW?
A child suffering from Abetalipoproteinemia has a defective gene each from both parents to get the condition.