Cerebrospinal Fluid Concentrations of Neurotransmitters in a Greek Pediatric Reference Population

Abstract

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 in 6 age groups. Strong correlation of homovanillic acid (HVA) and 5-hydroxyindoleacetic acid (5HIAA) levels with age was detected (p<0.001). Two patients were diagnosed with a defect in the biogenic amine synthetic pathway and 3 with a defect of tetrahydrobiopterin (BH4) 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. Conclusions: 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.

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“…Amines, such as biogenic amines and numerous medicinal molecules, are essential components of biochemical processes. They act as neurotransmitters, hormones, and signaling molecules between cells in living organisms [ 199 , 200 , 201 ]. Amines are also extensively used in industries, for example in the production of dyes, plastics, and pesticides.…”