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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 PDFTargeted and untargeted urinary metabolomics of alkaptonuria patients using ultra high-performance liquid chromatography-tandem mass spectrometry.
J Pharm Biomed Anal
January 2025
Institute of Pharmaceutical Sciences, Pharmaceutical (Bio-)Analysis, University of Tübingen, Auf der Morgenstelle 8, Tübingen 72076, Germany. Electronic address:
Alkaptonuria (AKU) is a rare autosomal-recessive disease which is characterized through black urine and ochronosis. It is caused by deficiency of the enzyme Homogentisate 1,2-dioxygenase in the Phenylalanine/Tyrosine degradation pathway which leads to the accumulation of Homogentisic acid (HGA). Urine was provided by AKU patients and healthy controls.
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.
The effects of age and sex on active and passive hip range of motion in individuals with alkaptonuria.
Disabil Rehabil
January 2025
Department of Clinical Biochemistry and Metabolic Medicine, Liverpool University Hospitals NHS Foundation Trust, Liverpool, United Kingdom.
Purpose: To report active and passive hip range of motion (ROM) data for individuals with alkaptonuria (AKU), with consideration for age, sex, and non-AKU comparative data.
Materials And Methods: Using a cross-sectional study design, 123 patients who had baseline ROM assessed in a previous international, multi-centre clinical trial were included. Data was compared between age groups, sexes, and with existing data from individuals without AKU.
[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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