[Usefulness of analysis of cerebrospinal fluid for the diagnosis of neurotransmitters and pterin defects and glucose and folate transport deficiencies across blood brain barrier]. / Utilidad del análisis del líquido cefalorraquídeo para el estudio de las deficiencias del metabolismo de neurotransmisores y pterinas y del transporte de glucosa y folato a través de la barrera hematoencefálica.

BACKGROUND AND OBJECTIVE: In the last few years, it has been described inborn errors of neurotransmitter and pterin metabolism and defects in folate and glucose transport across blood brain barrier. All these defects are classified as rare diseases and needs cerebrospinal fluid (CSF) sample analysis for diagnosis. Our aim was to evaluate the results of the application of a CSF analysis protocol in a pediatric population from Spain and Portugal presenting with neurological disorders of unknown origin. PATIENTS AND METHOD: We studied CSF samples from and 283 patients with neurological disorders of unknown origin and 127 controls. Neurotransmitters were analysed by HPLC with electrochemical detection, and pterins and 5-methyltetrahydrofolate were determined by HPLC with fluorescence detection. RESULTS: We diagnosed 3 patients with tyrosine hidroxylase deficiency, 2 with dopa responsive dystonia, 14 with GTP-ciclohydrolase deficiency, 2 with glucose transport deficiency and 43 with cerebral folate deficiency. CONCLUSIONS: This study allowed us to diagnose new patients, and more importantly, the establishment in all of them of a pharmacological or nutritional treatment. The most frequent defect found was CSF 5-methyltetrahydrofolate deficiency, which was present in different groups of patients.

Utilidad del análisis del líquido cefalorraquídeo para el estudio de las deficiencias del metabolismo de neurotransmisores y pterinas y del transporte de glucosa y folato a través de la barrera hematoencefálica / Usefulness of analysis of cerebrospinal fluid for the diagnosis of neurotransmitters and pterin defects and glucose and folate transport deficiencies across blood brain barrier

Fundamento y objetivo: En la última década se ha descrito diferentes errores congénitos del metabolismo de los neurotransmisores (NT), en especial de las vías dopaminérgica y serotoninérgica y de las pterinas. También se ha descrito defectos primarios en el transporte de glucosa y 5-metiltetrahidrofolato (5-MTHF) a través de la barrera hematoencefálica, todos ellos enfermedades raras para cuyo diagnóstico es necesario el estudio en líquido cefalorraquídeo (LCR). Nuestro objetivo ha sido evaluar los resultados de la aplicación de un protocolo de análisis de LCR en España y Portugal durante 3 años en pacientes pediátricos con trastornos neurológicos de origen desconocido. Pacientes y método: Se estudió a 127 individuos control y 283 pacientes con trastornos neurológicos de origen desconocido. El análisis de NT se realizó mediante HPLC con detección electroquímica y el análisis de pterinas y 5-MTHF, mediante HPLC con detección de fluorescencia. Resultados: Se ha diagnosticado 3 deficiencias de tirosina hidroxilasa en una misma familia, 2 casos de distonía sensible a L-dopa, 2 familias con defiencia de guanosinatrifosfato-ciclohidrolasa dominante (14 casos), 2 deficiencias del transportador de glucosa y 43 deficiencias de folato en LCR. Conclusiones: Este estudio ha permitido el diagnóstico de nuevos pacientes y, lo que es más importante, el establecimiento en todos ellos de un tratamiento farmacológico o nutricional. Las deficiencias de 5-MTHF han sido las más frecuentes y se las ha detectado en diferentes grupos de pacientes

Background and objective: In the last few years, it has been described inborn errors of neurotransmitter and pterin metabolism and defects in folate and glucose transport across blood brain barrier. All these defects are classified as rare diseases and needs cerebrospinal fluid (CSF) sample analysis for diagnosis. Our aim was to evaluate the results of the application of a CSF analysis protocol in a pediatric population from Spain and Portugal presenting with neurological disorders of unknown origin. Patients and method: We studied CSF samples from and 283 patients with neurological disorders of unknown origin and 127 controls. Neurotransmitters were analysed by HPLC with electrochemical detection, and pterins and 5-methyltetrahydrofolate were determined by HPLC with fluorescence detection. Results: We diagnosed 3 patients with tyrosine hidroxylase deficiency, 2 with dopa responsive dystonia, 14 with GTP-ciclohydrolase deficiency, 2 with glucose transport deficiency and 43 with cerebral folate deficiency. Conclusions: This study allowed us to diagnose new patients, and more importantly, the establishment in all of them of a pharmacological or nutritional treatment. The most frequent defect found was CSF 5-methyltetrahydrofolate deficiency, which was present in different groups of patients