無β・リポタンパク血症

Also known as familial hypobetalipoproteinemia, microsomal triglyceride transfer protein deficiency disease, Bassen-Kornzweig Syndrome, Microsomal Triglyceride Transfer Protein Deficiency, Bassen-Kornzweig disease, Homozygous familial hypobetalipoproteinemia, Mtp Deficiency, ABETALIPOPROTEINEMIA

Abetalipoproteinemia (also known as: Bassen–Kornzweig syndrome, microsomal triglyceride transfer protein deficiency disease, MTP deficiency, and betalipoprotein deficiency syndrome) is a disorder characterized by abnormal absorption of fat and fat-soluble vitamins from food. 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.