Evaluation of C26:0-lysophosphatidylcholine and C26:0-carnitine as diagnostic markers for Zellweger spectrum disorders.

Femke C C KlouwerSacha FerdinandusseHenk van LentheWim KulikRonald J A WandersBwee Tien Poll-TheHans R WaterhamFrederic M Vaz

Published in: Journal of inherited metabolic disease (2017)

C26:0-lysoPC in DBS is a sensitive and useful marker for VLCFA accumulation in patients with a ZSD. C26:0-carnitine in DBS is elevated in some ZSD patients, but is less useful as a diagnostic marker. Implementation of C26:0-lysoPC measurement in the diagnostic work-up when suspecting a ZSD is advised. This marker has the potential to be used for newborn screening for ZSD.

Keyphrases

end stage renal disease
deep brain stimulation
ejection fraction
newly diagnosed
chronic kidney disease
primary care
healthcare
prognostic factors
peritoneal dialysis
risk assessment
patient reported outcomes