Abetalipoproteinemia - an extremely rare inherited disorder

Abetalipoproteinemia (ABL) is an extremely rare inherited disorder, caused by mutations of the microsomal triglyceride-transfer protein gene. It is also known as Bassen-Kornzweig, Acanthocytosis, Apolipoprotein B deficiency. It affects the absorption of dietary fats, cholesterol, and certain vitamins. Abetalipoproteinemia patients are not able to make certain lipoproteins, which are molecules that consist of proteins combined with cholesterol and particular fats called triglycerides.


Anemia,stomach problems, sensory disturbances-Hypesthesia, walking trouble (ataxia),movement problems-shaking(Chorea),trouble reaching for things(dysmetria), talking trouble(dysarthria), Muscle problems, blood problems- such as anemia, clotting blood, abnormal red blood cells(acanthocytosis), eye problems-cataracts, ophthalmoplegia, poor eyesight, night blindness.


It is an inherited disease and is caused by a defect in the microsomal triglyceride transfer protein gene (MTTP) this gene provides instructions for making a protein called microsomal triglyceride transfer protein, which is essential for creating beta-lip proteins. Lack of fats and vitamin in body resulted Abetalipoproteinemia. The deficiencies of iron and folic acid resulted severe anemia,which is the most important symptom of Abetalipoproteinemia. Boys are affected more than girls..


A special diet developed for people with abetalipoproteinemia,. Avoiding eating certain type of fats, include nutritional food having vitamins such as Vitamin, E and K. Vitamin E helps the body restore and produce lipproteins, and also helps keep skin and eyes healthy. Persons with this syndrome should not eat long-chain triglycerides-type of fats. And limit fat intake to 5-20 grams per day. The diet should contain not more than 5 daily ounces of lean meat, fish, or poultry. Use skim milk. Large doses of vitamin supplements containing the fat-soluble vitamins-such as vitamin A, vitamin D, vitamin E and vitamin K are given. Linoleic acid supplements are also recommended. Dyspraxia and muscle weakness is usually treated with psysiotherapy, or occupational therapy.


High doses of fat-soluble vitamins resulted slow progression of some problems such as degeneration of the retina and decreased vision. Absorb dietary fat and vitamin E.

Alternative Therapy:

Orthomolecular medicine is a form of alternative therapy to treat Abetalipoproteinemia. Providing nutrients and vitamins, especially vitamin E. avoid refined foods, sugar and transfats and provide foods having vitamin E, such as vegetable oils, nuts and green leafy vegetables are the main source of vitamin E. A physician to treat this disorder may prescribe the Abetalipoproteinemia person special vitamin E supplements.

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1 comment:

Surendra said...

Here is some additional information about the "genetics" of this condition that was written by our Genetic Counselor and other genetic professionals: http://www.accessdna.com/condition/Abetalipoproteinemia/12. I hope it helps. Thanks, AccessDNA

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