Abetalipoproteinemia (also known as: Bassen-Kornzweig syndrome, microsomal triglyceride transfer protein deficiency disease, MTP deficiency, and betalipoprotein deficiency syndrome) is a disorder that interferes with the normal absorption of fat and fat-soluble vitamins from food. It is caused by a mutation in microsomal triglyceride transfer protein resulting in deficiencies in the apolipoproteins B-48 and B-100, which are used in the synthesis and exportation of chylomicrons and VLDL respectively. It is not to be confused with familial dysbetalipoproteinemia.It is a rare autosomal recessive disorder. Presentation
Symptoms
Often symptoms will arise that indicate the body is not absorbing or making the lipoproteins that it needs. These symptoms usually appear en masse.These symptoms come as follows:

Failure to thrive (i.e. failure to grow in infancy)
Steatorrhea (i.e. fatty, pale stools)
Frothy stools
Foul smelling stools
Protruding abdomen
Intellectual disability/developmental delay
Developmental coordination disorder, evident by age ten
Ataxia
Muscle weakness
Slurred speech (dysarthria)
Scoliosis (curvature of the spine)
Progressive decreased vision
Balance and coordination problems

Signs
Acanthocytosis
Retinitis pigmentosa
Low blood cholesterol

Features
Abetalipoproteinemia 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. This leads to a multiple vitamin deficiency, affecting the fat-soluble vitamin A, vitamin D, vitamin E, and vitamin K. However, many of the observed effects are due to vitamin E deficiency in particular. Signs and symptoms vary and present differently from person to person. In general, 80–99% of individuals exhibit malabsorption of fats and fat-soluble vitamins.
No results were posted.More recent research has focused on different ways to supply the patient with Vitamin E. In 2018, the Journal of Lipid Research posted a study testing alternative forms of Vitamin E absorption. Currently, Vitamin E is most often supplemented in the fat-soluble form vitamin E acetate. Due to fat malabsorption, the intended supplementation is considerable compromised. Two different forms were tested: vitamin E tocofersolan and α-tocopherol acetate. The study concluded that plasma bioavailabilities were extremely low (2.8% and 3.1%, respectively. Additionally, plasma concentrations of tocopherol were not significantly different in patients.This study provides new insight in vitamin E supplementation and suggest further research is needed with different forms of Vitamin E as possible treatment options to abetalipoproteinemia.Currently, there is a clinical study recruiting abetalipoproteinemia patients to study inherited retinal degenerative disease. References
External links
Abetalipoproteinemia at NLM Genetics Home Reference