chylomicron retention disease

A lipid metabolism disorder characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and the absence of chylomicrons and apolipoprotein B48 post-prandially. It has an autosomal recessive inheritance pattern and has_material_basis_

A lipid metabolism disorder characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and the absence of chylomicrons and apolipoprotein B48 post-prandially. It has an autosomal recessive inheritance pattern and has_material_basis_in mutations in the SAR1B gene on chromosome 5q31.1.

Signs and symptoms

• Diarrhea
• Decreased circulating LDL-C concentration
• Hypocholesterolemia
• Vomiting
• Impaired vibratory sensation
• Malnutrition
• Steatorrhea
• Hypoalbuminemia
• Accumulation of lipid droplets in small-bowel enterocytes
• Failure to thrive

Also known as: Anderson disease; CMRD