PMID: 8982947Jan 1, 1996Paper

Plasma total odd-chain fatty acids in the monitoring of disorders of propionate, methylmalonate and biotin metabolism

Journal of Inherited Metabolic Disease
M CokerM Duran

Abstract

Total plasma odd-numbered long-chain fatty acids were analysed in patients with methylmalonic acidaemia (vitamin B12-responsive and unresponsive), combined methylmalonic acidaemia/homocystinuria (CblC), propionic acidaemia (both neonatal-onset and late-onset), biotinidase deficiency and holocarboxylase synthase deficiency, as well as in hospital controls. Total odd-numbered long-chain fatty acids (C15:0, C17:1 and C17:0) were expressed as a percentage of total C12-C20 fatty acids. Control values were 0.72% +/- 0.31% (n = 12). Normalization of the percentage of odd-chain fatty acids occurred in all vitamin-responsive patients, following the institution of vitamin treatment. In general the neonatal-onset propionic acidaemia and B12-unresponsive methylmalonic acidaemia patients had the highest plasma odd-chain fatty acid concentrations, which correlated with the clinical condition but not with the urinary excretion of methylcitrate or methylmalonate. Plasma odd-chain fatty acid concentrations and methylmalonate excretions in CblC patients reacted very well to vitamin B12 treatment, but with no clinical response. Measurement of plasma odd-chain fatty acids is of no value for the monitoring of defects of biotin metabolism.

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Citations

Apr 8, 2006·Journal of Inherited Metabolic Disease·L Aldámiz-EchevarríaJ Rodríguez-Soriano
Oct 23, 2004·Clinical Chemistry and Laboratory Medicine : CCLM·Thomas MeissnerErtan Mayatepek
Jul 9, 2002·Journal of Pediatric Endocrinology & Metabolism : JPEM·Mahmut CokerDamla Gökşen
Sep 11, 2014·Orphanet Journal of Rare Diseases·Matthias R BaumgartnerAnupam Chakrapani
Apr 11, 2015·The British Journal of Nutrition·Rhona CreeganStephanie R Rainey-Smith
Feb 4, 2015·Molecules : a Journal of Synthetic Chemistry and Natural Product Chemistry·Benjamin JenkinsAlbert Koulman
Jul 24, 2018·Chemical Record : an Official Publication of the Chemical Society of Japan ... [et Al.]·Á Díaz-OrtizA de la Hoz
Aug 16, 2016·The Journal of Biological Chemistry·Patrick FornyMatthias R Baumgartner
Mar 15, 2020·Scientific Reports·Priyanka BhadwalNavneet Agnihotri

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