Hypobetalipoproteinemia, Familial, Apolipoprotein B

Familjär hypobetalipoproteinemi, apolipoprotein B

Engelsk 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.

Svenska synonymer

Apolipoprotein B-brist

Engelska synonymer

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