title: [Usefulness of analysis of cerebrospinal fluid for the diagnosis of neurotransmitters and pterin defects and glucose and folate transport deficiencies across blood brain barrier].
abstract: 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.
  
  
  METHODS
  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.
authors.affiliation: Hospital Sant Joan de Déu, Esplugues, Barcelona, España.
authors.forename: Aida
authors.initials: A
authors.lastname: Ormazabal
authors.forename: Angels
authors.initials: A
authors.lastname: García Cazorla
authors.forename: Belén
authors.initials: B
authors.lastname: Pérez Dueñas
authors.forename: Mercé
authors.initials: M
authors.lastname: Pineda
authors.forename: Angeles
authors.initials: A
authors.lastname: Ruiz
authors.forename: Eduardo
authors.initials: E
authors.lastname: López Laso
authors.forename: Maite
authors.initials: M
authors.lastname: García Silva
authors.forename: Inés
authors.initials: I
authors.lastname: Carilho
authors.forename: Clara
authors.initials: C
authors.lastname: Barbot
authors.forename: Bru
authors.initials: B
authors.lastname: Cormand
authors.forename: Marta
authors.initials: M
authors.lastname: Ribases
authors.forename: Lisbeth
authors.initials: L
authors.lastname: Moller
authors.forename: Emilio
authors.initials: E
authors.lastname: Fernández Alvarez
authors.forename: Jaume
authors.initials: J
authors.lastname: Campistol
authors.forename: Rafael
authors.initials: R
authors.lastname: Artuch
mesh_terms: D001812:Blood-Brain Barrier; D002675:Child, Preschool; D005492:Folic Acid / Q000134:cerebrospinal fluid* / Q000378:metabolism; D005947:Glucose / Q000134:cerebrospinal fluid* / Q000378:metabolism; D006801:Humans; D007223:Infant; D008661:Metabolism, Inborn Errors / Q000134:cerebrospinal fluid / Q000175:diagnosis*; D018377:Neurotransmitter Agents / Q000134:cerebrospinal fluid* / Q000378:metabolism; D011622:Pterins / Q000134:cerebrospinal fluid* / Q000378:metabolism
chemical_list: D018377:Neurotransmitter Agents; D011622:Pterins; D005492:Folic Acid; D005947:Glucose