L-tyrosine hydroxylase (TH) is a critical enzyme and involved in the conversion of L-tyrosine to L-3,4-dihydroxyphenylalanine (L-DOPA) in the human body. TH deficiency is a rare autosomal recessive disorder which results in cerebral catecholamine deficiency and causes symptoms of depression, movement disorders, and impaired development. L-DOPA is the common precursor of catecholamine neurotransmitters, therefore how to rapidly and precisely determine the ratio of L-DOPA to L-tyrosine in the bio-matrix is important to the clinical diagnosis of disorder. To response the demand, a low-cost, user-friendly, and on-site detection system is developed herein, which includes a wax-printing paper microfluidics as reaction platform, surface modification with sodium periodate for improving detection performance, an additive manufactured enclosed case for maintaining identical detection environment, and an IOS application (APP) to drive smartphone’s imaging to facilitate high-throughput quantification of multiple biomarkers simultaneously. Multiple experiments were conducted to understand the detection limit, detection range, shelf-life, and specificity of this quantification system even with a complex bio-matrix such as artificial urine or Fetal Bovine Sera (FBS). The experiment results showed that L-DOPA, L-tyrosine, and creatinine can be easily and rapidly quantified with high reliability and repeatability, demonstrating an efficient tool for routine checkup of patients with TH deficiency.

L-酪氨酸羟化酶 (TH) 是一种关键酶，参与人体内将 L-酪氨酸转化为 L-3,4-二羟基苯丙氨酸 (L-DOPA)。TH 缺乏症是一种罕见的常染色体隐性遗传病，可导致脑儿茶酚胺缺乏症，并导致抑郁、运动障碍和发育障碍的症状。L-DOPA是儿茶酚胺类神经递质的常见前体，因此如何快速准确地测定生物基质中L-DOPA与L-酪氨酸的比例对临床诊断疾病具有重要意义。针对这一需求，本文开发了一种低成本、用户友好的现场检测系统，包括以蜡印纸微流体为反应平台，用高碘酸钠进行表面改性以提高检测性能，用于维持相同检测环境的增材制造封闭外壳，以及用于驱动智能手机成像的 IOS 应用程序 (APP)，以促进同时对多种生物标志物进行高通量定量。进行了多项实验以了解该定量系统的检测限、检测范围、保质期和特异性，即使使用复杂的生物基质，如人工尿液或胎牛血清 (FBS)。实验结果表明，L-DOPA、L-酪氨酸和肌酐可以轻松快速地定量，具有高可靠性和可重复性，是对 TH 缺乏症患者进行常规检查的有效工具。和 IOS 应用程序 (APP) 来驱动智能手机的成像，以促进同时对多个生物标志物进行高通量定量。进行了多项实验以了解该定量系统的检测限、检测范围、保质期和特异性，即使使用复杂的生物基质，如人工尿液或胎牛血清 (FBS)。实验结果表明，L-DOPA、L-酪氨酸和肌酐可以轻松快速地定量，具有高可靠性和可重复性，是对 TH 缺乏症患者进行常规检查的有效工具。和 IOS 应用程序 (APP) 来驱动智能手机的成像，以促进同时对多个生物标志物进行高通量定量。进行了多项实验以了解该定量系统的检测限、检测范围、保质期和特异性，即使使用复杂的生物基质，如人工尿液或胎牛血清 (FBS)。实验结果表明，L-DOPA、L-酪氨酸和肌酐可以轻松快速地定量，具有高可靠性和可重复性，是对 TH 缺乏症患者进行常规检查的有效工具。