Chylomicron retention disease is an autosomal recessive disorder caused by mutations of the SAR1B gene. It is characterized by hypocholestrolemiadue to insufficient enteral resorption of lipids. Along with lipids some lipid soluble vilamins may be lacking. Manifestation is in early childhood with a failure to thrive.
Chylomicronemia | ||||
ABCA1 | ||||
ABCG5 | ||||
APOA5 | ||||
APOC2 | ||||
APOE | ||||
Chylomicron retention disease | ||||
SAR1B | ||||
GPIHBP1 | ||||
LCAT | ||||
LIPA | ||||
LIPC | ||||
LMF1 | ||||
LPL | ||||
SAR1B | ||||
1. |
Aguglia U et al. (2000) Vitamin E deficiency due to chylomicron retention disease in Marinesco-Sjögren syndrome. |
2. |
Jones B et al. (2003) Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders. |
3. |
Annesi G et al. (2007) SIL1 and SARA2 mutations in Marinesco-Sjögren and chylomicron retention diseases. |
4. |
Pessah M et al. (1991) Anderson's disease: genetic exclusion of the apolipoprotein-B gene in two families. |
6. |
Levy E et al. (1987) Intestinal apoB synthesis, lipids, and lipoproteins in chylomicron retention disease. |
7. |
Roy CC et al. (1987) Malabsorption, hypocholesterolemia, and fat-filled enterocytes with increased intestinal apoprotein B. Chylomicron retention disease. |
8. |
Nemeth A et al. (1995) Studies on lipoprotein metabolism in a family with jejunal chylomicron retention. |
9. |
Strich D et al. (1993) Anderson's disease: no linkage to the apo B locus. |
10. |
Dannoura AH et al. (1999) Anderson's disease: exclusion of apolipoprotein and intracellular lipid transport genes. |
11. |
None () ER-to-Golgi transport: COP I and COP II function (Review). |
12. |
Silvain M et al. (2008) Anderson's disease (chylomicron retention disease): a new mutation in the SARA2 gene associated with muscular and cardiac abnormalities. |
13. |
Wikipedia article Wikipedia EN (Chylomicron_retention_disease) |