chylomicron retention disease

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.

单词	chylomicron retention disease
释义	chylomicron retention disease 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. AcronymsSeeCMRD
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