Chylomicron retention disease

Chylomicron retention disease is an inherited disorder that impairs the normal absorption of fats, cholesterol, and certain vitamins from food. The features of chylomicron retention disease primarily affect the gastrointestinal system and nervous system.

Chylomicron retention disease begins in infancy or early childhood. Affected children have slow growth and weight gain, frequent (chronic) diarrhea, and foul-smelling stools (steatorrhea). They also have reduced blood cholesterol levels (hypocholesterolemia). Some individuals with chylomicron retention disease develop an abnormal buildup of fats in the liver called hepatic stenosis and can have an enlarged liver.

Other features of chylomicron retention disease develop later in childhood and often impair the function of the nervous system. Affected people may develop decreased reflexes (hyporeflexia) and a decreased ability to sense vibrations. Rarely, affected individuals have heart abnormalities or muscle wasting (amyotrophy).

Other names

Anderson disease; Anderson syndrome; CMRD; Hypobetalipoproteinemia with accumulation of apolipoprotein B-like protein in intestinal cells; Lipid transport defect of intestine

Inheritance pattern

Autosomal recessive

Related genes

SAR1B

Source: MedlinePlus Genetics, U.S. National Library of Medicine.