AI Summary & Key Takeaways
AI InsightClinicians should be aware of this pathology and thediagnosis should be confirmed by clinical, laboratory and radiological examinations.
📌 3 Key Takeaways
Abstract
Alkaptonuria is a hereditary and metabolic disease which is characterised byocranosis, arthritis and aciduria. It is a rare clinical condition which has an estimatedincidence varies from 1/ 250,000 to 1/1000000 live births. This autosomal recessivedisorder occurs as a result of homogentisic acid dioxygenase enzyme deficiencywhich takes part in tyrosine metabolism. This case report aimed to present a geriatricpatient who had diagnosed alkaptonuria. A 69 years old male was admitted to ourdepartment with knee-shoulder pain and range of motion (ROM) limitation. Hismedical history revealed that he had both mechanical and inflammatory joint painfor 22 years. The examination of his eyes were compatible with blue sclera and therewas also bluish black discoloration on the ears. He had also hearing loss. Qualitative24 hours collected urine examination showed dark black discoloration. The patientwas diagnosed as alkaptonuria. A physical therapy programme were planned to thepatient by our department. Clinicians should be aware of this pathology and thediagnosis should be confirmed by clinical, laboratory and radiological examinations.