Hypobetalipoproteinemia, Familial, Apolipoprotein B

**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.

**Tree numbers:** - C18.452.584.500.875.440.750 - C18.452.584.563.497

**Synonyms:** - Apolipoprotein B Deficiency Disease - Abetalipoproteinemia, Normotriglyceridemic, Steinbert Type - Hypobetalipoproteinemia, Familial, Apo B - Apolipoprotein B Deficiency