chylomicron retention disease

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chylomicron retention disease2016-11-25T09:11:12+00:00

chylomicron retention disease 

METABOLISM

An autosomal recessive disorder (OMIM:246700) of severe fat malabsorption associated with failure to thrive in infancy, and deficiency of fat-soluble vitamins, low serum cholesterol, and selective absence of chylomicrons in serum. 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. 

Synonyms ANDD, Anderson disease, CMRD, hypolipiproteinaemia with accumulation of apolipoprotein B-like protein in intestinal cells, lipid transport defect of intestine 

References http://www.uniprot.org/uniprot/Q9Y6B6 

http://www.omim.org/entry/246700

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