Question

An exceedingly rare disorder, chylomicron retention disease, often presents in early childhood with significant gastrointestinal and nervous system complications. What are the effects of this disorder on lipoprotein function and how is it similar to abetalipoproteinemia?

Answer 1

Chylomicron Retention disease also known as Anderson's disease. It is a rare autoimmune recessive disease characterized by malnutrition, growth retardation, failure to thrive and deficiency of Vit E. It also causes gastrointestinal, neurological, and ophthalmological complications. Chylomicron is small globules like structure present in the intestine that composed of fat and protein. It transports the fat into the liver. Sar1 GTPase regulates the secretion of chylomicrons. The genetic mutation of SAR 1B results in retention of chylomicron. So the lack of absorption of fat results in low LDL, HDL level.

Abetalipoproteinemia is similar to the above condition. It is a genetic disorder that interferes with the body 's fat absorption. In this, the absence of apo B-48 (lipoprotein) results in malabsorption of fat and leads to the elimination of fat in the feces(steatorrhea). It also results in a low level of total cholesterol and triglyceride level.