Chylomicron Retention Disease (CMRD)

Chylomicron Retention Disease (CMRD) is a genetic disorder that results in chylomicrons not being present.  (See Lipoproteins and Apolipoproteins)  The gene involved is located on chromosome 5, specifically 5q31.1.  The gene is called SARA2.

Ideogram of chrom 5

In this condition, apoB-48 is produced normally in the small intestines.  DNA mutations in SARA2 influence the ability of the cell to export the chylomicron particles.

Source:

http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=246700        

Diagnosis and Symptoms of Chylomicron Retention Disease

Inheritance of CMRD

How Does a Mutation affect the SARA2 Gene?

Table Comparing Abetalipoproteinemia, Familial Hypobetalipoproteinemia and Chylomicron Retention Disease