Lipid biomarkers play important roles in the diagnosis of and monitoring of treatment in peroxisomal disorders and lysosomal storage disorders. Today, a variety of lipids, including very long chain fatty acids, glycolipids, bile acids and the oxidation products of cholesterol, have been considered as biomarkers for these disorders. In this brief review, the authors summarized the recent advances regarding these lipid biomarkers in terms of their formation, metabolism and measurement in these disorders. An understanding of these biomarkers will offer a key to the development of novel diagnoses and help create more effective therapies in the future.
Keywords: 1-hexacosanoyl-2-hydroxy-sn-glycero-3-phosphocholine (LPC26:0); bile acids; cholesterol oxidation products; globotriaosylceramide; liquid chromatography-tandem mass spectrometry; lysosomal storage disorders; peroxisomal disorders.