Hyland K, Surtees R A, Heales S J, Bowron A, Howells D W, Smith I
Institute of Child Health, London, United Kingdom.
Pediatr Res. 1993 Jul;34(1):10-4. doi: 10.1203/00006450-199307000-00003.
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.
单胺神经递质和四氢生物蝶呤代谢先天性缺陷的准确诊断和管理依赖于关键代谢物可靠的参考范围。以标准化方式从73名患有神经系统疾病的儿童和青年中收集脑脊液（CSF），有严格的排除标准。在每个样本中，使用高效液相色谱法测量高香草酸（HVA）、5-羟吲哚乙酸（HIAA）、总蝶呤、7,8-二氢生物蝶呤和四氢生物蝶呤（BH4）的浓度。在生命的最初几年中，脑脊液中的HVA、HIAA和BH4持续下降；这与身高（或身长）无关。给出了每种代谢物与年龄相关的参考范围。通过多元回归进一步分析了HVA、HIAA、7,8-二氢生物蝶呤和BH4之间的广泛相关性。年龄和脑脊液BH4是脑脊液HIAA的重要解释变量，但脑脊液HVA仅以HIAA作为重要解释变量。
