chylomicron retention disease

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chy·lo·mi·cron re·ten·tion dis·ease

an inherited disorder in which apolipoprotein B-48 is retained in intestine and absent in plasma; results in fat malabsorption.

chylomicron retention disease

An autosomal recessive disorder (OMIM:246700) of severe fat malabsorption associated with failure to thrive in infancy, characterised by deficiency of fat-soluble vitamins, low serum cholesterol and selective absence of chylomicrons from blood. Affected individuals accumulate chylomicron-like particles in membrane-bound compartments of enterocytes, which contain large cytosolic lipid droplets.

Molecular pathology
Defects in SAR1B, which encodes a protein involved in transport from the endoplasmic reticulum to the Golgi apparatus, cause chylomicron retention disease.
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