Inherited disorders of complex lipid metabolism: A clinical review

Abstract

Over 80 human diseases have been attributed to defects in complex lipid metabolism. A majority of them have been reported recently in the setting of rapid advances in genomic technology and their increased use in clinical settings. Lipids are ubiquitous in human biology and play roles in many cellular and intercellular processes. While inborn errors in lipid metabolism can affect every organ system with many examples of genetic heterogeneity and pleiotropy, the clinical manifestations of many of these disorders can be explained based on the disruption of the metabolic pathway involved. In this review, we will discuss the physiological function of major pathways in complex lipid metabolism, including nonlysosomal sphingolipid metabolism, acylceramide metabolism, de novo phospholipid synthesis, phospholipid remodeling, phosphatidylinositol metabolism, mitochondrial cardiolipin synthesis and remodeling, and ether lipid metabolism as well as common clinical phenotypes associated with each.

Lipid analysis by ion mobility spectrometry combined with mass spectrometry: A brief update with a perspective on applications in the clinical laboratory

“…The International Lipid Classification and Nomenclature Committee (ILCNC) has classified lipids into eight categories: fatty acyls, glycerolipids, glycerophospholipids, sphingolipids, sterol lipids, prenol lipids, saccharolipids, and polyketides [17] . Lipids have vital biological roles as they are the main constituent of cell membranes, function as energy storehouses, and are transporters and signaling molecules both intra- and extracellularly [18] . Inherited errors of metabolism (caused by genetic mutations) [19] , [20] can lead to deficiencies in de novo synthesis, catabolism, or transport of lipids within the body.…”

Fat of the Gut: Epithelial Phospholipids in Inflammatory Bowel Diseases

“…These head groups define physical and chemical properties of an individual phospholipid and membrane structures dependent on the phospholipid content. The relation between physical structure of phospholipids and their function is well described in a recent review [ 64 ], and may be the key to lipid metabolism-associated pathologies [ 65 , 66 , 67 ].…”

Lipid Metabolism, Disorders and Therapeutic Drugs - Review

“…Similarly, the accumulation of bad and unwanted lipids, such as fatty LDLs and triglyceride, damage the arteries and have serious consequences for cardiovascular health. Recently, Xiao et al . (2021) published an article on inherited complex lipid metabolism disorders, stating that over 80 diseases have been identified as complex lipid metabolism defects.…”