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Diagnosing alkaptonuria-related nephropathy with urine albumin analysis.
Pediatr Nephrol
January 2025
Faculty of Medicine, Department of Pharmacology, Kırıkkale University, Kırıkkale, Turkey.
Homogentisic acid (HGA) accumulation in alkaptonuria (AKU) causes injuries in various organs including the kidney. We present a case of a 9-year-old girl initially diagnosed with AKU-related nephropathy due to proteinuria found in her urine analyses. Despite 1 month of ramipril treatment, the patient's proteinuria progressed, and as a result, kidney biopsy and nitisinone treatment were planned.
View Article and Find Full Text PDFAlkaptonuria presenting as lumbar degenerative disease: A case report and literature review.
Medicine (Baltimore)
January 2025
Ningbo Medical Center LiHuiLi Hospital, Ningbo, Zhejiang, PR China.
Rationale: Alkaptonuria (AKU) is a rare, inherited metabolic disease caused by deficient activity of homogentisic acid oxidase, leading to the accumulation of homogentisic acid and its oxidized product, benzoquinone acetic acid. These compounds cause black discoloration of cartilage, degeneration, inflammation, and calcification of intervertebral disks and large joints, resulting in pain and impaired quality of life. Despite its debilitating effects, there are no curative treatments for AKU, and management remains supportive.
View Article and Find Full Text PDFOchronotic Arthropathy of the Shoulder - A Rare Case Report.
J Orthop Case Rep
January 2025
Department of Orthopaedics, Apollo Adlux Hospital, Angamali, Kochi, Kerala, 683576, India.
Introduction: Alkaptonuria is a metabolic disorder due to accumulation of homogentisic acid, leading to destruction of major joints. Very few cases of ochronosis with shoulder involvement have been reported in literature.
Case Report: We report a 31-year-old male who presented with shoulder pain for 4 months.
Exploring the Osteoinductive Potential of Bacterial Pyomelanin Derived from in a Human Osteoblast Model.
Int J Mol Sci
December 2024
Department of Immunology and Infectious Biology, Faculty of Biology and Environmental Protection, University of Lodz, 12/16 Banacha St, 90-237 Łódź, Poland.
Alkaptonuria (AKU) is a genetically determined disease associated with disorders of tyrosine metabolism. In AKU, the deposition of homogentisic acid polymers contributes to the pathological ossification of cartilage tissue. The controlled use of biomimetics similar to deposits observed in cartilage during AKU potentially may serve the development of new bone regeneration therapy based on the activation of osteoblasts.
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.
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