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首页> 外文期刊>Journal of Neuroscience Methods >HPLC with electrochemical and fluorescence detection procedures for the diagnosis of inborn errors of biogenic amines and pterins.
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HPLC with electrochemical and fluorescence detection procedures for the diagnosis of inborn errors of biogenic amines and pterins.

机译：具有电化学和荧光检测程序的HPLC用于诊断生物胺和蝶呤的先天性错误。

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The analysis of biogenic amines (BA) and pterins in cerebrospinal fluid (CSF) is essential for the early diagnosis of neurotransmission defects in the paediatric age. Our aim was to standardize previously reported HPLC procedures for the analysis of BA and pterins in CSF and to establish reference values for a paediatric population. Samples from 127 subjects (age range 11 days to 16 years; average 3.8) were analyzed by HPLC with electrochemical and fluorescence detection. Both BA (homovanilic and 5-hydroxyindoleacetic acid) and pterins (neopterin and biopterin) concentrations in CSF showed a negative correlation with age. This finding led us to stratify reference values into six groups according to age. In conclusion, analysis of BA and pterins in CSF by HPLC procedures is a useful set of tools for the diagnosis of inborn errors of metabolism of these compounds. The establishment of reference intervals may be difficult, since there is a strong correlation between BA concentrations and the age of controls and, as a result, a large number of CSF samples from control populations would be necessary for this purpose.
机译：脑脊液（CSF）中生物胺（BA）和蝶呤的分析对于小儿年龄段神经传递缺陷的早期诊断至关重要。我们的目标是使先前报道的HPLC程序标准化，以分析CSF中的BA和蝶呤，并为儿科人群建立参考值。通过HPLC，电化学和荧光检测对127名受试者（年龄范围11天至16岁;平均3.8岁）的样品进行了分析。脑脊液中的BA（全氨基苯甲酸和5-羟基吲哚乙酸）和蝶呤（新蝶呤和双蝶呤）的浓度均与年龄呈负相关。这一发现使我们根据年龄将参考值分为六类。总之，通过HPLC程序分析CSF中的BA和蝶呤是诊断这些化合物代谢的先天性错误的有用工具。建立参考区间可能很困难，因为BA浓度与对照组年龄之间存在很强的相关性，因此，为此目的需要大量来自对照组的CSF样本。

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