Abetalipoproteinemia
Also known asBassen-Kornzweig Syndrome · Bassen Kornzweig Syndrome · Microsomal Triglyceride Transfer Protein Deficiency Disease · Bassen-Kornzweig Disease · Bassen Kornzweig Disease · Microsomal Triglyceride Transfer Protein Deficiency · Betalipoprotein Deficiency Disease · Betalipoprotein Deficiency Diseases · Deficiency Disease, Betalipoprotein · Deficiency Diseases, Betalipoprotein · Disease, Betalipoprotein Deficiency · Diseases, Betalipoprotein Deficiency
Definition
An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features include defective intestinal lipid absorption, very low serum cholesterol level, and near absent LDL.
MeSH classification
- C16.320.565.398.500.440.500
- C18.452.584.500.875.440.500
- C18.452.584.563.500.440.500
- C18.452.648.398.500.440.500
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Ask GoDavaii AI about AbetalipoproteinemiaSource: NIH MeSH 2026 (D000012) — National Library of Medicine, public domain. View official MeSH record ↗