Chylomicron retention disease
|Chylomicron retention disease|
|Classification and external resources|
Chylomicron retention disease is a disorder of fat absorption. It is associated with SAR1B. Mutations in SAR1B prevent the release of chylomicrons in the circulation which leads to nutritional and developmental problems. It is a rare autosomal recessive disorder with around 40 cases reported worldwide, since it is recessive parents usually do not express symptoms.
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.
Signs and Symptoms
In the months following birth, signs and symptoms will appear. Some symptoms will manifest gradually during childhood.
- Failure to gain weight
- Failure to thrive
- Foul-smelling feces, steatorrhea
- Impaired nervous system functions
- Decreased reflexes, hyporeflexia
- 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.
- 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.
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