Antiquitin (ATQ) deficiency leads to tissue, plasma, and urinary accumulation of alpha‐aminoadipic semialdehyde (AASA) and its Schiff base delta‐1‐piperideine‐6‐carboxylate (P6C). Although genetic testing of ALDH7A1 is the most definitive diagnostic method, quantifications of pathognomonic metabolites are important for the diagnosis and evaluation of therapeutic and dietary interventions. Current metabolite quantification methods use laborious, technically highly complex, and expensive liquid chromatography‐tandem mass spectro‐metry, which is available only in selected laboratories worldwide. Incubation of ortho‐aminobenzaldehyde (oABA) with P6C leads to the formation of a triple aromatic ring structure with characteristic absorption and fluorescence properties. The mean concentration of P6C in nine urine samples from seven ATQ‐deficient patients under standard treatment protocols was statistically highly significantly different (P  < .001) compared to the mean of 74 healthy controls aged between 2 months and 57 years. Using this limited data set the specificity and sensitivity is 100% for all tested age groups using a P6C cut‐off of 2.11 μmol/mmol creatinine, which represents the 99% prediction interval of the P6C concentrations in 17 control urine samples from children below 6 years of age. Plasma P6C concentrations were only elevated in one ATQ subject, possibly because P6C is trapped by pyridoxal‐5‐phosphate (PLP) blocking fusing with oABA. Nevertheless, both urine and plasma samples were amenable to the quantification of exogenous P6C with high response rates. The P6C quantification method using fusion of oABA with P6C is fast, simple, and inexpensive and might be readily implemented into routine clinical diagnostic laboratories for the early diagnosis of neonatal pyridoxine‐dependent epilepsy.

中文翻译：

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delta-1-piperideine-6-carboxylate 与 ortho-aminobenzaldehyde 的缩合允许其在古蛋白缺乏症患者的尿液中进行简单、快速和廉价的定量。

Antiquitin (ATQ) 缺乏会导致组织、血浆和尿液中 α-氨基己二酸半醛 (AASA) 及其席夫碱 delta-1-哌啶-6-羧酸盐 (P6C) 的积累。虽然ALDH7A1 的基因检测是最确定的诊断方法，特征代谢物的量化对于治疗和饮食干预的诊断和评估很重要。当前的代谢物定量方法使用费力、技术上高度复杂且昂贵的液相色谱-串联质谱法，该方法仅在全球选定的实验室中可用。邻氨基苯甲醛 (oABA) 与 P6C 的孵育导致形成具有特征吸收和荧光特性的三芳环结构。在标准治疗方案下，来自 7 名 ATQ 缺陷患者的 9 份尿液样本中 P6C 的平均浓度在统计学上有显着差异（P < .001) 与年龄在 2 个月到 57 岁之间的 74 名健康对照的平均值进行比较。使用这个有限的数据集，所有测试年龄组的特异性和敏感性为 100%，使用 2.11 μmol/mmol 肌酐的 P6C 临界值，这代表了来自 6 岁以下儿童的 17 个对照尿液样本中 P6C 浓度的 99% 预测区间岁。血浆 P6C 浓度仅在一名 ATQ 受试者中升高，可能是因为 P6C 被 5-磷酸吡哆醛 (PLP) 阻断与 oABA 融合。尽管如此，尿液和血浆样本都适合外源性 P6C 的定量，并具有高响应率。使用 oABA 与 P6C 融合的 P6C 定量方法快速、简单、