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?
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?
Depending on age, patients can be given high doses of drugs to treat Abetalipoproteinemia. Other treatments like consumption of high fat soluble vitamins, food supplements with linoleic acids, proper diet and balanced nutrition can also help a lot. Lowering fat intake in form of milk or meat or junk food is a must.
DID YOU KNOW?
Early detection and treatment of the disease prevents further deterioration of the patient’s health.