Disorders of Lipid Metabolism

Lipids are organic molecules readily soluble in organic solvents, insoluble in water due to biochemical transformations, and metabolized through several enzymes of β-oxidation pathway. They play a vital role in metabolic functions, such as structural organization, energy depository, cellular signaling, energy metabolism, transmission of nerve impulse, and transport of nutrients. The dysfunction in lipid metabolism leads to a number of complications like hyperlipidemia, hypercholesterolemia, triglyceridemia, hypertriglyceridemia, and hyperlipoproteinemia. Moreover, secondary metabolites of lipid irregularities result in a wide range of disorders like hypothyroidism, obesity, diabetes mellitus, liver cholestasis, Gaucher disease, Tay-Sachs disease, and renal ailments. They are also reported in varied conditions like lymphoma, porphyria, and Cushing disease. Disorders of lipid metabolism often cause atherosclerotic vascular diseases including thromboembolic cerebrovascular disease, ischemic heart disease, and peripheral vascular disease. Lipid metabolism disorders have become a widespread global issue, necessitating increased research to develop prognostic/diagnostic strategies. The chapter will mainly deal with the genetic and epigenetic studies in lipid metabolism disorders.