Diseases and Disorders, Hyperlipoproteinemias
Last Updated: October 27, 2025 Introduction to the Familial Hypercholesterolemias Classic familial hypercholesterolemia, FH (type 2a hyperlipidemia) is an autosomal dominant disorder that results from mutations affecting the structure and function of the cell-surface...
Diseases and Disorders, Hypolipoproteinemias
Last Updated: October 30, 2025 Clinical Features of PCSK9-Mediated FHBL Familial hypobetalipoproteinemia syndrome (FHBL) is causally associated with increased hepatic fat content. The most common mutations associated with FHBL are truncating mutations in the APOB...
Diseases and Disorders, Hypolipoproteinemias
Last Updated: November 7, 2025 Clinical Features of APOB Truncation Mutations Familial hypobetalipoproteinemia (FHBL) is an autosomal dominant disorder that is most commonly due to truncating loss-of-function mutations in the APOB gene. The characteristic features of...
Biochemistry Topics, Lipid Metabolism
Last Updated: October 27, 2025 Introduction to Cholesterol Cholesterol is an extremely important biological molecule that has roles in membrane structure as well as being a precursor for the synthesis of the steroid hormones, and the bile acids....
