Abetalipoproteinemia (ABL) is an extremely rare autosomal recessive disorder, caused by mutations of the microsomal triglyceride-transfer protein gene.
Abetalipoproteinemia interferes with the normal absorption of fat and fat-soluble vitamins from food. It is not to be confused with dysbetalipoproteinemia. It affects the absorption of dietary fats, cholesterol, and certain vitamins. People affected by this disorder are not able to make certain lipoproteins, which are molecules that consist of proteins combined with cholesterol and particular fats called triglycerides. These lipoproteins, referred to as beta-lipoproteins, include low-density lipoproteins, very-low-density lipoproteins, and chylomicrons. Babies born with abetalipoproteinemia have stomach problems because the body can’t digest fats properly. They have abnormal stools which are pale colored and foul-smelling.
