Abetalipoproteinemia is a rare genetic disorder that affects the body's ability to absorb dietary fats, cholesterol, and fat-soluble vitamins. It is an autosomal recessive disorder, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to develop the condition.
Abetalipoproteinemia is caused by mutations in the microsomal triglyceride transfer protein (MTTP) gene, which is responsible for the production of a protein called apolipoprotein B. This protein is essential for the formation and secretion of lipoproteins, which are responsible for transporting fats and fat-soluble vitamins in the bloodstream. Without functional apolipoprotein B, the body cannot properly absorb and transport these substances.
Abetalipoproteinemia is not contagious. It is an inherited disorder that is passed down through families. If both parents carry a single copy of the mutated gene, there is a 25% chance with each pregnancy that their child will inherit two copies and develop abetalipoproteinemia. However, it is important to note that the condition is extremely rare, with an estimated prevalence of less than 1 in 1,000,000 individuals.
Although abetalipoproteinemia is not contagious, it is important for individuals with the condition to receive appropriate medical care and follow a specialized diet to manage their symptoms. This may include dietary supplementation with fat-soluble vitamins and a low-fat diet to prevent complications associated with malabsorption.