Microsomal triglyceride transfer protein deficiency disease, also known as abetalipoproteinemia, is a rare autosomal recessive disorder characterized by the absence or dysfunction of microsomal triglyceride transfer protein (MTP). MTP is a protein involved in the assembly and secretion of lipoproteins, which are responsible for transporting triglycerides, cholesterol, and fat-soluble vitamins in the blood.
Individuals affected by microsomal triglyceride transfer protein deficiency disease exhibit various symptoms related to malabsorption of dietary fats. These symptoms manifest as failure to thrive and growth retardation in infants, as well as gastrointestinal problems such as chronic diarrhea and steatorrhea (excessive fat in feces). Furthermore, individuals may develop neurological complications due to the impaired transport of fat-soluble vitamins, leading to deficiencies in vitamin E and A. Symptoms associated with vitamin E deficiency can include muscle weakness, poor coordination, and difficulty walking, while vitamin A deficiency can lead to vision problems and night blindness.
Furthermore, microsomal triglyceride transfer protein deficiency disease can result in the accumulation of fat droplets in the liver, leading to hepatomegaly (enlargement of the liver) and potentially progressing to liver cirrhosis. Individuals with this condition may also present with low levels of cholesterol and triglycerides in the blood, as well as low-density lipoprotein (LDL) cholesterol. These abnormalities may increase the risk of developing cardiovascular diseases.
Currently, treatment for microsomal triglyceride transfer protein deficiency disease generally involves dietary modifications to manage fat absorption and supplementation with fat-soluble vitamins. Overall, the management and prognosis of this disorder require comprehensive medical care and ongoing monitoring to address the various potential complications.
