Journal of Inherited Metabolic Disease

, Volume 19, Issue 6, pp 743–751 | Cite as

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

  • M. Çoker
  • J. B. C. de Klerk
  • B. T. Poll-The
  • J. G. M. Huijmans
  • M. Duran
Article

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.

Keywords

Propionate Urinary Excretion High Plasma Total Plasma Methylmalonic 

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Copyright information

© SSIEM and Kluwer Academic Publishers 1996

Authors and Affiliations

  • M. Çoker
    • 1
    • 2
  • J. B. C. de Klerk
    • 1
  • B. T. Poll-The
    • 3
  • J. G. M. Huijmans
    • 1
  • M. Duran
    • 1
    • 3
  1. 1.Department of Clinical Genetics and PediatricsErasmus UniversityRotterdamThe Netherlands
  2. 2.Department of PediatricsEge UniversityIzmirTurkey
  3. 3.Wilhelmina Children's HospitalUtrechtThe Netherlands

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