chylomicron retention disease

(redirected from CMRD)
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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.
References in periodicals archive ?
5] Nonstandard abbreviations: T2DM, type 2 diabetes mellitus; TC, total cholesterol; LDL-C, LDL cholesterol; apo B, apolipoprotein B; HBL, hypobetalipoproteinemia; ABL, abetalipoproteinemia; CMRD, chylomicron retention disease; FHBL, familial HBL; MGUS, monoclonal gammopathy of undetermined significance.
CMRD plans to begin its operation with 100 researchers and scientists in the first year.
14]C]Mannose incorporation is evidently decreased in the total protein fraction of chylomicrons in CMRD patients compared with controls, pointing toward deficient N-glycan biosynthesis (210).