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

• Published in: Journal of inherited metabolic disease Vol. 19; no. 6; p. 743
• Main Authors: Coker, M, de Klerk, J B, Poll-The, B T, Huijmans, J G, Duran, M
• Format: Journal Article
• Language: English
• Published: United States 01.01.1996
• Subjects: Adolescent; Biotin - metabolism; Child; Child, Preschool; Fatty Acids - blood; Female; Humans; Infant; Infant, Newborn; Male; Malonates - metabolism; Propionates - metabolism
• DOI: 10.1007/BF01799166
• ISSN: 0141-8955

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.