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Abetalipoproteinemia | |
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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]