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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
General
lipid metabolism, inborn error; lipid storage disease; lipidosis
Database Correlations
OMIM 246700
References
- UniProt :accession Q9Y6B6
- OMIM :accession 246700