AI Article Synopsis
- Alkaptonuria is a rare genetic disorder that leads to the buildup of homogentisic acid due to the lack of a specific enzyme, causing physical symptoms over time.
- The case study details a 55-year-old man who experienced stroke-like symptoms, arthritis, and changes in urine color, prompting further investigation.
- Biochemical tests confirmed alkaptonuria and revealed associated complications such as mild kidney issues and crystal formation in urine, highlighting the rarity of such complications in previous reports.
Article Abstract
Alkaptonuria, a rare inborn error of tyrosine metabolism, characterized by the absence of homogentisic acid oxidase results in the accumulation of homogentisic acid in the body. Associated renal failure and cerebral infarction is rare and usually occurs in the later stages of the disease. We report a 55-year-old male who presented, initially with features of stroke and degenerative arthritis. He had pigmentation of sclerae, darkening of urine on long standing, abnormal renal profile, degenerative arthritis and cerebral infarction. Alkaptonuria was suspected and biochemical tests confirmed mild renal impairment, homogentisic acid in urine and homogentisic acid crystal was detected cytologically in urine sediment. Such a case of Alkaptonuric ochronosis with cerebrovascular and renal complications have been rarely reported in the previous literature.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3453108 | PMC |
| http://dx.doi.org/10.1007/s12291-010-0038-6 | DOI Listing |
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