ReviewEuropean journal of rheumatology2019
Musculoskeletal manifestations of alkaptonuria: A case report and literature review.
Review in European journal of rheumatology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.
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Who cites it
34 citing papers in PubMed, 60 citations in OpenAlex.
- Polychondritis and Arthritis in a Patient with Coexisting Alkaptonuria and Psoriasis Vulgaris.Internal medicine (Tokyo, Japan) · 2026Article
- Ensemble learning uncovers novel metabolomic biomarkers for early osteoporosis prediction in Tibetan plateau populations.Metabolism open · 2026Article
- Spontaneous Achilles tendon rupture as the initial presentation of ochronosis: a case report.International journal of surgery case reports · 2026Article
- A Dark Turn in the OR: Incidental Discovery of Ochronosis during Trauma Surgery: A Case Report.Journal of orthopaedic case reports · 2025Article
- Article
- Total Joint Arthroplasty in Ochronotic Arthritis of Lower Extremities.Indian journal of orthopaedics · 2025Article
- Combined alkaptonuria and osteoporosis contributing to chronic back pain.Endocrinology, diabetes & metabolism case reports · 2025Article
- Treatment of Ochronotic Osteoarthropathy and the Evaluation of Selected Lower Limb Muscle Properties, Including the Patellar Tendon: A Case Report and Mini Literature Review.Journal of clinical medicine · 2025Article
- Article
- Ochronotic arthropathy: skeletal manifestations and orthopaedic treatment.EFORT open reviews · 2025Review
- Alkaptonuria: Clinical Spectrum of a Diagnosed Case in Bahrain With a Literature Review.Cureus · 2025Article
- Alkaptonuria: a rare disease with multiorgan manifestation and a long-awaited diagnosis.BMJ case reports · 2024Article
- Recent developments in Achilles tendon risk-analyzing rupture factors for enhanced injury prevention and clinical guidance: Current implications of regenerative medicine.Journal of orthopaedic translation · 2024Review
- Direct repair of the chronic ochronotic Achilles tendon rupture: a case report.BMC musculoskeletal disorders · 2024Article
- Article
- Arthroplasty in Ochronotic Arthropathy: 3 Replacements in a Single Patient with a Long-term Follow-up of 11 Years.Journal of orthopaedic case reports · 2024Article
- Alkaptonuria in an Elderly Presenting with Asynchronous Rupture of both Quadriceps Tendons and Chronic Kidney Failure: Case Report and Literature Review.Journal of orthopaedic case reports · 2023Article
- Article
- Identification of Potential Inhibitors for the Treatment of Alkaptonuria Using an Integrated In Silico Computational Strategy.Molecules (Basel, Switzerland) · 2023Article
- Dilemmas in the diagnosis and management of osteoporosis in a patient with alkaptonuria: Successful treatment with teriparatide.Clinical case reports · 2022Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Alkaptonuria (AKU) is a rare autosomal recessive disorder that results from the deficient activity of homogentisate 1,2-dioxygenase and leads to increased levels of homogentisic acid (HGA) and its oxidized product benzoquinone acetic acid (BQA). Both HGA and BQA form polymerized deposits that lead to a bluish-black discoloration of the cartilage as well as degeneration, inflammation, and calcification of the tendons, ligaments, intervertebral discs, and large joints and increased bone resorption. A brittle and fragmented cartilage forms and leads to aberrant loading of the subchondral bone. These fragments then adhere to the synovial membrane and cause fibrosis or chondromatosis, leading to ochronotic arthropathy. Ochronotic tendinopathy most commonly affects the patellar or Achilles tendon and can lead to enthesopathy or spontaneous tendon ruptures. Ochronotic pigments deposited in the bone impair the bone mineralization process and lead to osteopenia or osteoporosis. Here, we report a case of a patient with several musculoskeletal manifestations of AKU and reviewed the literature to summarize the pathophysiology, clinical characteristics, and radiologic findings of the rheumatic features of AKU. Though medical treatment options are limited, early identification of AKU can facilitate prompt surgical intervention.
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Registered trials
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