TY - CHAP
T1 - Inborn errors of non-mitochondrial fatty acid metabolism including peroxisomal disorders
AU - Wanders, Ronald J. A.
AU - Engelen, Marc
AU - Vaz, Frédéric M.
PY - 2022/6/24
Y1 - 2022/6/24
N2 - Fatty acids (FAs) play multiple physiological roles in humans as building blocks of (phospho)lipids, precursor of other biomolecules including long-chain alcohols and eicosanoids, oxidizable substrate, and signaling molecules, and occur in multiple different forms which vary widely in terms of their length, degree of unsaturation, and number and types of side-chain modifications. Biosynthesis of all these different FAs may start from palmitic acid synthesized de novo by the FASN-complex or from exogenous, dietary FAs including the essential FAs linoleic acid and linolenic acid for the synthesis of FAs from the (omega-3) and (omega-6) series, respectively. Proper homeostasis of FA metabolism dictates that the FAs synthesized and incorporated into other lipid species also undergo degradation and/or recycling. In this Chapter we will describe the essential features of FA metabolism in human cells with on the one hand the biosynthesis of all the different FAs to be incorporated into lipid species and the different disorders involved, and on the other hand the degradation of the FAs released from these lipid species and the different disorders involved. Altogether, these include the disorders of ether lipid biosynthesis, and peroxisomal α- and β-oxidation, the disorders of fatty acid chain elongation and fatty acid/fatty alcohol and fatty aldehyde metabolism and the disorders of eicosanoid metabolism.
AB - Fatty acids (FAs) play multiple physiological roles in humans as building blocks of (phospho)lipids, precursor of other biomolecules including long-chain alcohols and eicosanoids, oxidizable substrate, and signaling molecules, and occur in multiple different forms which vary widely in terms of their length, degree of unsaturation, and number and types of side-chain modifications. Biosynthesis of all these different FAs may start from palmitic acid synthesized de novo by the FASN-complex or from exogenous, dietary FAs including the essential FAs linoleic acid and linolenic acid for the synthesis of FAs from the (omega-3) and (omega-6) series, respectively. Proper homeostasis of FA metabolism dictates that the FAs synthesized and incorporated into other lipid species also undergo degradation and/or recycling. In this Chapter we will describe the essential features of FA metabolism in human cells with on the one hand the biosynthesis of all the different FAs to be incorporated into lipid species and the different disorders involved, and on the other hand the degradation of the FAs released from these lipid species and the different disorders involved. Altogether, these include the disorders of ether lipid biosynthesis, and peroxisomal α- and β-oxidation, the disorders of fatty acid chain elongation and fatty acid/fatty alcohol and fatty aldehyde metabolism and the disorders of eicosanoid metabolism.
UR - https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85151600576&origin=inward
UR - https://www.ncbi.nlm.nih.gov/pubmed/36785730
U2 - https://doi.org/10.1007/978-3-662-63123-2_42
DO - https://doi.org/10.1007/978-3-662-63123-2_42
M3 - Chapter
C2 - 36785730
SN - 9783662631225
T3 - Inborn Metabolic Diseases: Diagnosis and Treatment
SP - 785
EP - 809
BT - Inborn Metabolic Diseases: Diagnosis and Treatment
PB - Springer Berlin Heidelberg
ER -