[Usefulness of analysis of cerebrospinal fluid for the diagnosis of neurotransmitters and pterin defects and glucose and folate transport deficiencies across blood brain barrier].
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.
Ormazabal
Aida
A
Hospital Sant Joan de Déu, Esplugues, Barcelona, España.
García Cazorla
Angels
A
Pérez Dueñas
Belén
B
Pineda
Mercé
M
Ruiz
Angeles
A
López Laso
Eduardo
E
García Silva
Maite
M
Carilho
Inés
I
Barbot
Clara
C
Cormand
Bru
B
Ribases
Marta
M
Moller
Lisbeth
L
Fernández Alvarez
Emilio
E
Campistol
Jaume
J
Artuch
Rafael
R
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
D018377:Neurotransmitter Agents; D011622:Pterins; D005492:Folic Acid; D005947:Glucose