Definition: An autosomal dominant disorder of lipid metabolism. It is caused by mutations of APOLIPOPROTEINS B, main components of CHYLOMICRONS and BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features include abnormally low LDL, normal triglyceride level, and dietary fat malabsorption.
Other names Apolipoprotein B Deficiencies; Hypobetalipoproteinemia, Familial, Apo B; Apolipoprotein B Deficiency Disease; Abetalipoproteinemia, Normotriglyceridemic, Steinb; Apolipoprotein B Deficiency