AI Summary & Key Takeaways
AI InsightIn this case report, on the occasion a female patient of 51, referring to our hospital and eventually diagnosed as ochronosis, clinical and biochemical features of alkaptonuria are reviewed
📌 3 Key Takeaways
Abstract
Alkaptonuria is rarely seen inherited metabolic diseases characterised with the accumulation of homogentisic acid in various body fluids and tissues caused by the lack of enzyme of homogentisic acid oxidase in the metabolism of thyrosine amino acid. In this disease laboratory and clinical findings such as homogentisic aciduria, ochronosis and arteritis are generally observed. In this case report, on the occasion a female patient of 51, referring to our hospital and eventually diagnosed as ochronosis, clinical and biochemical features of alkaptonuria are reviewed
Özet
Alkaptonuri tirozin metabolizmasında, homogentisik asit oksidaz enziminin eksikliği sonucu, vücut sıvı ve dokularında homogentisik asit birikimi ile karakterize nadir rastlanan kalıtsal metabolik hastalıklardan biridir. Alkaptonüride, homogentisik asitüri, okronosis ve artritten oluşan laboratuvar ve klinik bulguları gözlenir. Bu olguda, 51 yaşında bel ve kalça ağrıları yakınması ile hastanemize müracaat eden bayan bir hasta dolayısıyla alkaptonüri tanısında, klinik ve laboratuvar yaklaşımı gözden geçirildi.