Familial hypobetalipoproteinemia

Definition:

Familial hypobetalipoproteinemia (FHBL) is an inherited disorder of lipid metabolism defined by very low levels of plasma apolipoprotein B and LDL cholesterol. Mutations in the gene encoding apolipoprotein B (APOB) have been found in FHBL. It has been identified that mutations in ANGPTL3 also cause this disease.

References:

[1]. John R Burnett, et al. A novel nontruncating APOB gene mutation, R463W, causes familial hypobetalipoproteinemia. J Biol Chem. 2003 Apr 11;278(15):13442-52. [Content Brief]

[2]. Kiran Musunuru, et al. Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia. N Engl J Med. 2010 Dec 2;363(23):2220-7. [Content Brief]

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