Neuropediatrics 2023; 54(02): 126-133
DOI: 10.1055/a-1988-2412
Original Article

Cerebrospinal Fluid Concentrations of Neurotransmitters in a Greek Pediatric Reference Population

1   Pediatric Department, 401 General Military Hospital, Athens, Greece
2   First Department of Pediatrics, National and Kapodistrian University of Athens, Agia Sofia Hospital, Athens, Greece
Evangelos Papakonstantinou
3   Neolab SA Medical Laboratory, Athens, Greece
Efstathia Paramera
3   Neolab SA Medical Laboratory, Athens, Greece
Ioanna Argyri
4   Second Department of Pediatrics, National and Kapodistrian University of Athens, Aglaia Kyriakou Hospital, Athens, Greece
Eleni Drakou
2   First Department of Pediatrics, National and Kapodistrian University of Athens, Agia Sofia Hospital, Athens, Greece
Eleftheria Kokkinou
2   First Department of Pediatrics, National and Kapodistrian University of Athens, Agia Sofia Hospital, Athens, Greece
Vicky Zouvelou
2   First Department of Pediatrics, National and Kapodistrian University of Athens, Agia Sofia Hospital, Athens, Greece
Chrysa Outsika
2   First Department of Pediatrics, National and Kapodistrian University of Athens, Agia Sofia Hospital, Athens, Greece
Roser Pons
2   First Department of Pediatrics, National and Kapodistrian University of Athens, Agia Sofia Hospital, Athens, Greece
› Author Affiliations


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.

Supplementary Material

Publication History

Received: 28 June 2022

Accepted: 28 November 2022

Accepted Manuscript online:
28 November 2022

Article published online:
12 January 2023

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Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

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