Chylomicron retention disease
Chylomicron retention disease is a disorder of fat absorption.[2] It is associated with SAR1B.[3] Mutations in SAR1B prevent the release of chylomicrons in the circulation which leads to nutritional and developmental problems.[4] It is a rare autosomal recessive disorder with around 40 cases reported worldwide. Since the disease allele is recessive, parents usually do not show symptoms.[4]
| Chylomicron retention disease | |
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| Other names | Anderson disease [1] |
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| This condition is inherited in an autosomal recessive manner | |
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.[4]
Signs and symptoms
In the months following birth, signs and symptoms will appear. Some symptoms will manifest gradually during childhood.[4]
- Failure to gain weight
- Failure to thrive
- Diarrhea
- Foul-smelling feces, steatorrhea
- Impaired nervous system functions
- Decreased reflexes, hyporeflexia
Diagnosis
Treatment
References
- RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Chylomicron retention disease". www.orpha.net. Retrieved 17 July 2019.
- 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.
- http://ghr.nlm.nih.gov/condition/chylomicron-retention-disease
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