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.

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.

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.