A rhodamine based boronic acid linearly responds to increasing 5-aminoimidazole-4-carboxamide riboside (AICAr) concentrations in human urine. This method is thus an advance in detecting adenylosuccinate lyase (ADSL) deficiency as AICAr is a model riboside for the ADSL substrates succinyladenosine (S-Ado) and succinylaminoimidazolecarboxamide riboside (SAICAr). ADSL deficiency is a rare but devastating disease of de novo purine synthesis in infants. Its diagnosis is also significant as it is one of the autism spectrum disorders.

中文翻译：

---

人类尿液中腺苷酸琥珀酸裂解酶缺乏症的简单直接检测进展。

基于罗丹明的硼酸对人尿中 5-氨基咪唑-4-甲酰胺核苷 (AICAr) 浓度的增加呈线性响应。因此，该方法在检测腺苷酸琥珀酸裂解酶 (ADSL) 缺乏症方面取得了进步，因为 AICAr 是 ADSL 底物琥珀酰腺苷 (S-Ado) 和琥珀酰氨基咪唑甲酰胺核苷 (SAICAr) 的模型核苷。ADSL 缺乏症是一种罕见但具有破坏性的婴儿嘌呤从头合成疾病。它的诊断也很重要，因为它是自闭症谱系障碍之一。