caa a22 4500 475786459 CHVBK 20180406123659.0 cr unu---uuuuu 170329e20000101xx s 000 0 eng 10.1007/s004310050010 doi (NATIONALLICENCE)springer-10.1007/s004310050010 Odd-numbered long-chain fatty acids in propionic acidaemia [Elektronische Daten] [W. Sperl, C. Murr, D. Skladal, J. O. Sass, T. Suormala, R. Baumgartner, U. Wendel] In patients with propionic acidaemia (PA), the increased intracellular concentration of propionyl-CoA leads to a relative abundance of odd-numbered long-chain fatty acids (OLCFAs) in body lipids. We investigated the relative amount of OLCFA in erythrocyte membrane lipids over a period of 1-8 years in five patients with early onset PA and present their clinical outcome. After extraction from erythrocyte membrane lipids and esterification, fatty acids were analysed by capillary column gas chromatography. The sum of the OLCFA 15- and 17- carbon saturated and 17-carbon monounsaturated fatty acids (C15:0, C17:0, C17:1) was calculated and expressed as a percentage of the total C14-C22 fatty acids in the sample. Three patients (pccBC-complementation group) presented with a stable clinical course and showed OLCFA values usually below 1.9% (median % ± SD: 1.4 ± 0.5, 1.6 ± 0.5, 1.8 ± 0.5). Two patients (pccA-complementation group) had a more severe course of the disease and showed higher medians and a broader range of OLCFA levels (2.2 ± 1.2 and 2.2 ± 0.8). Conclusion Our study shows that odd-numbered long-chain fatty acid concentrations are increased in patients with propionic acidaemia and are higher in those with a more severe clinical course. The value of odd-numbered long-chain fatty acids in the assessment of the phenotypic severity and in the management of propionic acidaemia remains to be proven in a prospective long-term study with more patients of differing phenotype. Springer-Verlag Berlin Heidelberg, 2000 Key words Propionic acidaemia nationallicence Odd numbered long-chain fatty acids nationallicence Metabolic control nationallicence Sperl W. Department of Paediatrics, University of Innsbruck, Austria, AT aut Murr C. Department of Paediatrics, University of Innsbruck, Austria, AT aut Skladal D. Department of Paediatrics, University of Innsbruck, Austria, AT aut Sass J. O. Department of Paediatrics, University of Innsbruck, Austria, AT aut Suormala T. Metabolic Unit, Childrens Hospital, Basle, Switzerland, CH aut Baumgartner R. Metabolic Unit, Childrens Hospital, Basle, Switzerland, CH aut Wendel U. Department of Paediatrics, University of Düsseldorf, Germany, DE aut https://doi.org/10.1007/s004310050010 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s004310050010 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Sperl W. Department of Paediatrics, University of Innsbruck, Austria, AT aut NATIONALLICENCE 700 1- Murr C. Department of Paediatrics, University of Innsbruck, Austria, AT aut NATIONALLICENCE 700 1- Skladal D. Department of Paediatrics, University of Innsbruck, Austria, AT aut NATIONALLICENCE 700 1- Sass J. O. Department of Paediatrics, University of Innsbruck, Austria, AT aut NATIONALLICENCE 700 1- Suormala T. Metabolic Unit, Childrens Hospital, Basle, Switzerland, CH aut NATIONALLICENCE 700 1- Baumgartner R. Metabolic Unit, Childrens Hospital, Basle, Switzerland, CH aut NATIONALLICENCE 700 1- Wendel U. Department of Paediatrics, University of Düsseldorf, Germany, DE aut Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer