Abstract
The quantification of neurotransmitters or their metabolites in cerebrospinal fluid (CSF) can provide valuable clues for the detection of (often treatable) genetic disorders or their biosynthesis or salvage pathways. These analyses are technically demanding since the concentrations to be assessed are in the nanomolar range. To date, only a few laboratories worldwide offer these analyses. Since some metabolites are unstable at room temperature and sensitive to light or oxygen, special preparation of sampling tubes is helpful and the samples should be immediately frozen at the bedside. Furthermore, due to a craniocaudal gradient, a sampling protocol with numbered tubes should be adhered to. In addition to the technical difficulties, interpretation of the biochemical findings in lumbar CSF is much more complex than the interpretation of results in urine or blood. This article will focus on some pitfalls associated with the interpretation of analyses of dopamine, serotonin and pterin metabolites, and examines clinical data from pediatric patients to further illustrate those pitfalls.
Paper version not known (
Free)
Published Version
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
