CEREBROSPINAL-FLUID CONCENTRATIONS OF PTERINS AND METABOLITES OF SEROTONIN AND DOPAMINE IN A PEDIATRIC REFERENCE POPULATION

Accurate diagnosis and management of inborn errors of monoamine neurot ransmitter and tetrahydrobiopterin metabolism depend on reliable refer ence ranges of key metabolites. Cerebrospinal fluid (CSF) was collecte d in a standardized way from 73 children and young adults with neurolo gic disease, with strict exclusions. In each specimen, concentrations of homovanillic acid (HVA), 5-hydroxyindoleacetic acid (HIAA), total n eopterin, 7,8-dihydrobiopterin, and tetrahydrobiopterin (BH4) were mea sured using HPLC. There was a continuous decrement in CSF HVA, HIAA, a nd BH4 during the first few years of life; this was independent of hei ght (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.