Hypobetalipoproteinemia, Familial, Apolipoprotein B
Synonyms
Abetalipoproteinemia, Normotriglyceridemic, Steinbert Type
Apolipoprotein B Deficiencies
Apolipoprotein B Deficiency
Apolipoprotein B Deficiency Disease
Hypobetalipoproteinemia, Familial, Apo B
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.