Beta lipoproteins are those compounds which carry cholesterol in the blood stream. It is made of proteins and large amount of cholesterol and may be fats like triglyceride. LDL (low density lipoprotein) is a beta lipoprotein. Abetalipoproteinemia means there is absence of these lipoproteins. This is a rare autosomal recessive disease which is caused by mutation in the MTTP (microsomal triglyceride transfer protein). This causes decresed or absence of absorbtion of the fats and fat soluble vitamins like Vitamin A, D, E, K. Sign of abetalipoproteinemia is acanthocytes. These are star shaped red blood cells. The most important feature to this disease is steatorrhoea i.e fat in the stools which is unabsorbed fat. Vitamin E deficiency is a very common severity of this disease.
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The cause lies behind change in genetics and mutation in the gene called MTTP (microsomal triglyceride transfer protein). This produces a protein called MTTP which is essential for creating betalipoproteins; these are essential for absorption of cholesterol, fats and fat soluble vitamins and also for their development. So there is unabsorbed fat which can be seen the enterocytes. The fat may get deposited in the liver also and may be responsible for liver steatosis. There will be low level of Chylomicron in the blood. The pattern of inheritance is autosomal recessive i.e for this disease to occur both the genes on allele should be present.
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The main symptoms of the condition are:
- Foul smelling stools
- Dyspyraxia, which is the lack of initiation and performance of action.
- Symptoms affecting the eye, as there is lack of Vitamin A
- Ataxia or motor incoordinantion
- Muscle weakness, due to deficiency of Vitamin D
- Bending of curvature (scoliosis or lordosis)
- Abnormal development of CNS
- Fatty stools
Genetic testing can be done to reveal the incidence of the disease, thus help in prevention of any deterioration. Genetic testing works by studying the individual's DNA; certain chromosomes can reveal important information about health and disease.
High doses of fat soluble vitamins may be taken, that are able to slow the progression of some problems such as degeneration of the retina and decreased vision.
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|Symptomatic treatment, Diet Control||Naturopathy|
Since vitamin E is totally lacking in the body, so a symptomatic treatment can be made with it as the main cause of this disease is its deficiency. This consists of rigorous dieting, involving mass amounts of vitamin E. Vitamin E helps the body restore and produce lipoproteins. Vitamin E also helps keep skin and eyes healthy. Dyspraxia and muscle weakness is usually treated with physiotherapy, or occupational therapy. A nutritionist works on the diet plans of the child and family affected by abetalipoproteinemia.
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