The enzymatic defect leading to alcaptonuria is well known. However, the pathogenesis of the associated arthropathy is poorly understood. From clinical and morphological observations it is assumed that the breakdown of ochronotic cartilage is due to an increased fragility. To test the hypothesis that polymerisation products of homogentisic acid change the biomechanical behaviour of hyalin cartilage, investigations on natural ochronotic cartilage and tissues following in vitro incubation with homogentisic acid were performed. It could be demonstrated that the "ochronotic situation" is associated with an increased hardness and a decreased elasticity of the hyalin cartilage. For the pathogenesis of ochronotic arthropathy it is assumed that these alterations, in association with mechanical stress to the joints, lead to cartilage destruction.
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Alkaptonuria (AKU) is an extremely rare autosomal recessive metabolic disorder caused by deficiency of homogentisic acid oxidase and resulting in accumulation of homogentisic acid in collagenous structures. It is characterized by a triad of homogentisic aciduria, bluish-black discoloration of connective tissues (ochronosis) and arthropathy of large weight bearing joints. We report on a middle-aged female patient with bilateral severe ochronotic arthritis of both hips and shoulder joints requiring total joint replacements as staged procedures which were done without complications offering a complete pain relief and a satisfactory clinical and functional outcome.
View Article and Find Full Text PDF[Total hip arthroplasty secondary to ocronotic arthropathy. A case report].
Acta Ortop Mex
January 2025
Universidad Anáhuac Querétaro, México.
Introduction: alkaptonuria is a rare hereditary metabolic disorder which is characterized by deficiency of the enzyme homogentisate 1,2 dioxygenase, which is responsible for the oxidation and renal elimination of homogentisic acid (HGA), which causes its accumulation. The excessive accumulation of HGA results in ochronosis and ochronotic arthropathy, which mainly affects the thoracolumbar spine and the large joints, leading to the need for joint replacement seeking to improve function and quality of life.
Clinical Case: hereby is presented a 67-years-old female patient with history of alkaptonuria with diffuse painful right hip of 4 years of evolution.
Direct repair of the chronic ochronotic Achilles tendon rupture: a case report.
BMC Musculoskelet Disord
October 2024
Division of Orthopaedic Surgery, Department of Medicine of Sensory and Motor Organs, Faculty of Medicine, University of Miyazaki, Kihara, Kiyotake, Miyazaki, 5200, 889-1692, Japan.
Article Synopsis
- Alkaptonuria (AKU) is a rare genetic disorder that can lead to musculoskeletal issues like joint pain and tendon problems, complicating surgical treatments for conditions like chronic Achilles tendon rupture.
- A 60-year-old woman with AKU experienced persistent left hindfoot pain and was diagnosed with a chronic Achilles tendon rupture, which was confirmed by MRI showing scar tissue.
- Surgical repair of the tendon using the scar tissue was successful, with significant improvement in the patient's pain and tendon function recorded at 12 and 18 months post-surgery, highlighting the importance of careful surgical planning in such cases.
Alkaptonuria (AKU) is an extremely rare autosomal recessive metabolic disorder caused by deficiency of homogentisic acid oxidase and resulting in accumulation of homogentisic acid in collagenous structures. It is characterized by a triad of homogentisic aciduria, bluish-black discoloration of connective tissues (ochronosis) and arthropathy of large weight bearing joints. We report on a middle-aged female patient with bilateral severe ochronotic arthritis of both hips and shoulder joints requiring total joint replacements as staged procedures which were done without complications offering a complete pain relief and a satisfactory clinical and functional outcome.
View Article and Find Full Text PDFAn in vitro cell model for exploring inflammatory and amyloidogenic events in alkaptonuria.
J Cell Physiol
December 2024
Dipartimento di Biotecnologie, Chimica e Farmacia, Università di Siena, Siena, Italy.
Article Synopsis
- Alkaptonuria (AKU) is a hereditary metabolic disorder that primarily affects cartilage, leading to early osteoarthritis due to a process called ochronosis.
- Researchers faced challenges in studying AKU using human chondrocytes but overcame this by creating an in vitro model using immortalized C20/A4 cells treated with homogentisic acid (HGA), mimicking AKU conditions.
- This model revealed important insights, including oxidative stress and inflammatory responses linked to AKU, as well as potential amyloid fibril formation, highlighting its usefulness for understanding the disease and aiding in drug development.
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