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

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Abstract
Summary: 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.