Cerebrospinal Fluid Concentrations of Neurotransmitters in a Greek Pediatric Reference Population.
Neuropediatrics
; 54(2): 126-133, 2023 04.
Article
in En
| MEDLINE
| ID: mdl-36442788
ABSTRACT
BACKGROUND:
Biogenic amines and pterins analysis in cerebrospinal fluid (CSF) are reliable biomarkers for the diagnosis of inherited disorders of monoamine neurotransmitters.OBJECTIVE:
The objectives of this study were the establishment of reference values of CSF biogenic amine metabolites in a cohort of Greek children, the detection of primary defects of biogenic amine metabolism, and the assessment of biogenic amine metabolites in children with different neurological disorders.METHODS:
CSF biogenic amine metabolites and pterins (biopterin and neopterin) were analyzed using high-performance liquid chromatography with electrochemical and fluorescence detection. Three hundred sixty-three samples were analyzed 60 infants and children with no history of neurological disorder, 6 with inherited disorders of monoamine neurotransmitters, and 297 with diverse neurological disorders.RESULTS:
Reference values were stratified into six age groups. A strong correlation between homovanillic acid (HVA) and 5-hydroxyindoleacetic acid (5HIAA) levels with age was detected (p < 0.001). Two patients were diagnosed with a defect of the biogenic amine synthetic pathway and three with a defect of tetrahydrobiopterin cofactor production. HVA and 5HIAA abnormalities were detected within different groups of neurological disorders, but none followed a specific pattern of HVA and 5HIAA abnormalities.CONCLUSION:
In the current study, Greek reference values of biogenic amines and pterins in CSF are presented. Five new patients with inherited monoamine neurotransmitter disorders are described. Nonspecific secondary biogenic amine disturbances can be seen in patients with different neurological disorders.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Biogenic Amines
/
Nervous System Diseases
Limits:
Child
/
Humans
/
Infant
Country/Region as subject:
Europa
Language:
En
Journal:
Neuropediatrics
Year:
2023
Document type:
Article
Affiliation country:
Greece