Hypobetalipoproteinemia, Familial, Apolipoprotein B D052476

Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » Lipid Metabolism Disorders » Lipid Metabolism, Inborn Errors » Hypobetalipoproteinemia, Familial, Apolipoprotein B

Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » Lipid Metabolism Disorders » Dyslipidemias » Hypolipoproteinemias » Hypobetalipoproteinemias » Hypobetalipoproteinemia, Familial, Apolipoprotein B

Description

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.   MeSH

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