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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 PDFDiagnosing 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 PDFErratum to 'Long-Term Outcomes of the Knee and Hip Arthroplasties in Patients with Alkaptonuria' [Arthroplasty Today. Volume 6, Issue 4, December 2020, Pages 689-693].
Arthroplast Today
December 2024
Department of Pharmacology, Faculty of Medicine, Mutah University, Karak, Jordan.
[This corrects the article DOI: 10.1016/j.artd.
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