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• W2014209675 abstract "Summary Total plasma odd‐numbered long‐chain fatty acids were analysed in patients with methylmalonic acidaemia (vitamin B 12 ‐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 (C 15:0 , C 17:1 and C 17:0 ) were expressed as a percentage of total C 12 –C 20 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 B 12 ‐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 B 12 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." @default.
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• W2014209675 date "1996-04-11" @default.
• W2014209675 modified "2023-10-10" @default.
• W2014209675 title "Plasma total odd-chain fatty acids in the monitoring of disorders of propionate, methylmalonate and biotin metabolism" @default.
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• W2014209675 doi "https://doi.org/10.1007/bf01799166" @default.
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