chylomicron retention disease (Anderson disease)

Pathology

• selective absence of chylomicrons from plasma
• affected individuals accumulate chylomicron-like particles in membrane-bound compartments of enterocytes, which contain large cytosolic lipid droplets

Genetics

• autosomal recessive
• associated with defects in SAR1B

Clinical manifestations

• severe fat malabsorption
• failure to thrive in infancy
• deficiency of fat-soluble vitamins

Laboratory

• low serum cholesterol

More general terms

• lipid metabolism, inborn error; lipid storage disease; lipidosis

Database

• OMIM: https://mirror.omim.org/entry/246700