PDF(Pubmed)
Abstract：
Alkaptonuria is a rare genetic metabolic disorder of autosomal recessive inheritance characterised by the accumulation of homogentisic acid in the body. It is diagnosed upon identification of characteristic symptoms, using various biochemical investigations, radiographic pictures, and a variety of specialised tests. Here we are discussing the case of an 80-year-old female patient with incidental findings of alkaptonuria. It is crucial to understand the fundamental diagnostic investigations that can be used in low-income nations or facilities where investigations like genetic testing, gas chromatography, and mass spectrometry are not readily available for the diagnosis of alkaptonuria.
摘要：
碱尿症是一种罕见的常染色体隐性遗传的遗传代谢紊乱，其特征是体内均质酸的积累。它是在确定特征性症状后被诊断出来的，使用各种生化研究，射线照相图片,和各种专门的测试。在这里，我们正在讨论一名80岁女性患者的病例，该患者偶然发现了alkaptonuria。至关重要的是要了解可以在低收入国家或设施中使用的基本诊断调查，如基因检测，气相色谱法,和质谱法不容易用于诊断alkaptonuria。
