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Accurate diagnosis and management of inborn errors of monoamine neurotransmitter and tetrahydrobiopterin metabolism depend on reliable reference ranges of key metabolites. Cerebrospinal fluid (CSF) was collected in a standardized way from 73 children and young adults with neurologic disease, with strict exclusions. In each specimen, concentrations of homovanillic acid (HVA), 5-hydroxyindoleacetic acid (HIAA), total neopterin, 7,8-dihydrobiopterin, and tetrahydrobiopterin (BH4) were measured using HPLC. There was a continuous decrement in CSF HVA, HIAA, and BH4 during the first few years of life; this was independent of height (or length). Age-related reference ranges for each metabolite are given. Extensive correlations between HVA, HIAA, 7,8-dihydrobiopterin, and BH4 were further analyzed by multiple regression. Age and CSF BH4 were significant explanatory variables for CSF HIAA, but CSF HVA had only HIAA as a significant explanatory variable.

Cerebrospinal Fluid Concentrations of Pterins and Metabolites of Serotonin and Dopamine in a Pediatric Reference Population