Plasma total odd-chain fatty acids in the monitoring of disorders of propionate, methylmalonate and biotin metabolism.
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.
Coker
M
M
Erasmus University, Department of Clinical Genetics, Rotterdam, The Netherlands.
de Klerk
J B
JB
Poll-The
B T
BT
Huijmans
J G
JG
Duran
M
M
D000293:Adolescent; D001710:Biotin / Q000378:metabolism*; D002648:Child; D002675:Child, Preschool; D005227:Fatty Acids / Q000097:blood*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008314:Malonates / Q000378:metabolism; D011422:Propionates / Q000378:metabolism*
D005227:Fatty Acids; D008314:Malonates; D011422:Propionates; D001710:Biotin; C005230:methyl malonate; C029658:propionic acid