1- Department of Neurology, University Child Hospital San Joan de Déu, Barcelona
2- Metabolic Unit, University Child Hospital San Joan de Déu, Barcelona
3- CIBERER, Instituto Salud Carlos III, Madrid
4- Genetic and Biochemistry Department, University Child Hospital San Joan de Déu, Barcelona
5- Molecular Medicine Institute, Lisbon University, Portugal
6- Child Neurology Department, Hospital Dona Estefânia, CHLC, EPE, Lisbon
7- Intensice Care Unit-Neonatal, University Child Hospital San Joan de Déu, Barcelona
- Annual Symposium of SSIEM - 2-5 September 2014, Innsbruck, Austria
Background/Objectives: Pyridoxal 5’-phosphate is the active form of vitamin B6, and acts as the cofactor of multiple enzymatic reactions. Among the most important ones, participates in the non-limiting step in the synthesis pathway of neurotransmitters, namely dopamine, serotonin and GABA. We aim to describe the B6 status and its possible relation with the neurotransmitter profile in the CSF of 20 patients with different neuropaediatric disorders.
Patients and Methods: 20 samples from 20 patients with concomitant quantitation of dopamine, serotonin, B6 and GABA were analysed. 10 of those patients have early onset epilepsy. Other diagnosis are tyrosine hydroxilase deficiency, Aicardi-Goutières syndrome, 5 patients with epilepsy, secondary hyperphenilalaninemia and 2 with developmental delay.
Results: there are 4 patients with B6 deficiency but no correlation with the neurotransmitters’ profile was found. A correlation with normal B6 level and neurotransmitters’ values can neither be reported. A positive correlation between HVA and 5HIIA was found, as expected. No positive correlation between GABA and HVA was found.
Discussion/Conclusion: No correlation with B6 and neurotransmitters was found, possibly due to its role in general brain homeostasis. Alterations in NT and B6 profile were more frequently detected in early stages and neonatal period.
Palavras Chave: Neurotransmissores, dopamina, serotonina, vitamina B6