Research progress of monogenetic disorders of the lipid metabolism / 基础医学与临床

ABSTRACT

Monogenetic disorders of the lipid metabolism are closely related to atherosclerotic cardiovascular disea-ses. Different mutations contribute to different pathogenesis and clinical presentations.Mutations in endogenous lipid metabolic pathway increase serum low density lipoprotein cholesterol or total cholesterol; mutations in exogenous lipid metabolism cause hypertriglyceridemia and mixed dyslipidemia; mutations in the reverse cholesterol transport lead to high density lipoprotein abnormalities.