en عمومى General گزارش مورد case report <span style="font-size:12pt"><span style="line-height:16.0pt"><span new="" roman="" style="font-family:" times=""><b><i><span style="font-size:9.0pt">Background & Aims</span></i></b><b><span style="font-size:9.0pt">: </span></b><span style="font-size:9.0pt">Alkaptonuria is a rare autosomal recessive genetic disorder caused by a deficiency of homogentisate 1,2-dioxygenase, leading to the accumulation of homogentisic acid. It presents with a characteristic triad of homogentisic aciduria, ochronosis, and progressive arthritis, often resulting in secondary osteoarthritis, particularly affecting the hip and knee joints. </span></span></span></span><br> <span style="font-size:12pt"><span style="line-height:16.0pt"><span new="" roman="" style="font-family:" times=""><b><i><span lang="EN-IN" style="font-size:9.0pt">Case Description</span></i></b><b><span lang="EN-IN" style="font-size:9.0pt">: </span></b><span style="font-size:9.0pt">A 58-year-old male presented with severe pain in the right hip and left shoulder. Since childhood, his urine had turned black upon exposure to sunlight. His medical history included multiple fractures and orthopedic interventions. On clinical examination, bluish-black discoloration of the ear lobes and sclera was noted. Biochemical testing, including Benedict&rsquo;s test, ammoniacal silver nitrate test, and a filter paper spot test using 10% sodium hydroxide, confirmed the diagnosis of alkaptonuria. The patient was diagnosed with osteoarthritis secondary to alkaptonuria and underwent a successful total hip replacement.</span></span></span></span><br> <span style="font-size:12pt"><span style="line-height:16.0pt"><span new="" roman="" style="font-family:" times=""><b><i><span lang="EN-IN" style="font-size:9.0pt">Conclusion</span></i></b><b><span lang="EN-IN" style="font-size:9.0pt">: </span></b><span style="font-size:9.0pt">Early diagnosis and intervention in alkaptonuria are crucial to preventing the debilitating effects of secondary osteoarthritis. A multidisciplinary approach in the management of patients with alkaptonuria can help reduce morbidity and improve quality of life by addressing both symptoms and the underlying disease.</span></span></span></span><span style="font-size:12pt"><span style="background:#d9d9d9"><span style="line-height:16.0pt"><span new="" roman="" style="font-family:" times=""><b><span style="font-size:9.0pt"></span></b></span></span></span></span> Alkaptonuria, Ammoniacal silver nitrate test, Homogentisic acid, Ochronotic arthropathy 68 74 http://ijrabms.umsu.ac.ir/browse.php?a_code=A-10-420-1&slc_lang=en&sid=1 Sabina Lois drsabina81@gmail.com 10031947532846003882 0009-0002-6397-3689 Yes Department of Biochemistry, PSG Institute of Medical Sciences and Research, Coimbatore, Tamil Nadu, India Aruna Veeruswamy 10031947532846003883 10031947532846003883 No Department of Biochemistry, PSG Institute of Medical Sciences and Research, Coimbatore, Tamil Nadu, India Kamalanathan Kulandaivelu 10031947532846003884 10031947532846003884 No Department of Orthopaedics, PSG Institute of Medical Sciences and Research, Coimbatore, Tamil Nadu, India Mohan Prasad Muthusamy 10031947532846003885 10031947532846003885 No Department of Orthopaedics, PSG Institute of Medical Sciences and Research, Coimbatore, Tamil Nadu, India Yee Tun Oo 10031947532846003886 10031947532846003886 No Department of Orthopaedics, PSG Institute of Medical Sciences and Research, Coimbatore, Tamil Nadu, India