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


Coker M. , DEKLERK J., POLLTHE B., HUIJMANS J., DURAN M.

JOURNAL OF INHERITED METABOLIC DISEASE, cilt.19, ss.743-751, 1996 (SCI İndekslerine Giren Dergi) identifier identifier

  • Cilt numarası: 19 Konu: 6
  • Basım Tarihi: 1996
  • Doi Numarası: 10.1007/bf01799166
  • Dergi Adı: JOURNAL OF INHERITED METABOLIC DISEASE
  • Sayfa Sayıları: ss.743-751

Özet

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.