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| Abetalipoproteinemia | |
|---|---|
| Other names | Bassen-Kornzweig syndrome[1] |
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| Micrograph showing enterocytes with a clear cytoplasm (due to lipid accumulation) characteristic of abetalipoproteinemia. Duodenal biopsy. H&E stain. | |
| Specialty | Endocrinology  |
Abetalipoproteinemia (also known as: Bassen–Kornzweig syndrome, microsomal triglyceride transfer protein deficiency disease, MTP deficiency, and betalipoprotein deficiency syndrome[2]) is a disorder characterized by abnormal absorption of fat and fat-soluble vitamins from food.[3] It is caused by a mutation in microsomal triglyceride transfer protein resulting in deficiencies in the apolipoproteins B-48 and B-100, which are used in the synthesis and exportation of chylomicrons and VLDL respectively. It is not to be confused with familial dysbetalipoproteinemia.
It is a rare autosomal recessive disorder.[4]
- ^ Bassen FA, Kornzweig AL (April 1950). "Malformation of the erythrocytes in a case of atypical retinitis pigmentosa". Blood. 5 (4): 381–87. doi:10.1182/blood.V5.4.381.381. PMID 15411425.
- ^ "Abetalipoproteinemia". Genetic and Rare Diseases Information Center (GARD) – an NCATS Program. U.S. National Institutes of Health. Archived from the original on 2019-10-14. Retrieved 2019-11-06.
- ^ "Abetalipoproteinemia". Genetics Home Reference. U.S. National Library of Medicine. Retrieved 2018-04-18.
- ^ Benayoun L, Granot E, Rizel L, Allon-Shalev S, Behar DM, Ben-Yosef T (April 2007). "Abetalipoproteinemia in Israel: evidence for a founder mutation in the Ashkenazi Jewish population and a contiguous gene deletion in an Arab patient". Molecular Genetics and Metabolism. 90 (4): 453–7. doi:10.1016/j.ymgme.2006.12.010. PMID 17275380.