Case Study:


A 46-year-old male presents to the emergency department with severe right toe pain. The patient was in usual state of health until early in the morning when he woke up with severe pain in his right big toe. The patient denies any trauma to the toe and no previous history of such pain in other joints. He did say that he had a “few too many” beers with the guys last night. On examination, he was found to have a temperature of 100.80F (38.20C) and in moderate distress secondary to the pain in his right toe. The right big toe was swollen, warm, red and exquisitely tender. The remainder of the exam was normal. Synovial (joint) fluid was obtained and revealed rod- or needle-shaped crystals.


1. What is the likely diagnosis??


2. How would you make a definite diagnosis??


3. What is the biochemistry of this disorder??


4. Define the following terms:


            Allopurinol:


            HGPRT:


            Lesch-Nyhan:


            Xanthine Oxidase:

© Dr. Noel Sturm 2014

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