Chylomicron retention disease

Chylomicron retention disease
Classification and external resources
OMIM 246700
DiseasesDB 33188

Chylomicron retention disease is a disorder of fat absorption.[1] It is associated with SAR1B.[2] Mutations in SAR1B prevent the release of chylomicrons in the circulation which leads to nutritional and developmental problems.[3] It is a rare autosomal recessive disorder with around 40 cases reported worldwide, since it is recessive parents usually do not express symptoms.[3]

Without functional chylomicrons certain fat-soluble vitamins such as vitamin D and vitamin E cannot be absorbed. Chylomicrons have a crucial role in fat absorption and transport, thus deficiency in chylomicron functioning reduces available levels of dietary fats and fat-soluble vitamins.[3]

Signs and Symptoms

In the months following birth, signs and symptoms will appear. Some symptoms will manifest gradually during childhood.[3]


  1. Roy CC, Levy E, Green PH, et al. (February 1987). "Malabsorption, hypocholesterolemia, and fat-filled enterocytes with increased intestinal apoprotein B. Chylomicron retention disease". Gastroenterology. 92 (2): 390–9. PMID 3792776.
  2. Jones B, Jones EL, Bonney SA, et al. (May 2003). "Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders". Nat. Genet. 34 (1): 29–31. doi:10.1038/ng1145. PMID 12692552.
  3. 1 2 3 4

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