ReviewJournal of inherited metabolic disease2015
Old treatments for new insights and strategies: proposed management in adults and children with alkaptonuria.
Review in Journal of inherited metabolic disease, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 28 citations in OpenAlex.
- Alkaptonuria.Nature reviews. Disease primers · 2024Review
- 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
- Adequacy of nitisinone for the management of alkaptonuria.Annals of medicine and surgery (2012) · 2022Article
- New insights and advances on pyomelanin production: from microbial synthesis to applications.Journal of industrial microbiology & biotechnology · 2022Review
- Case Report: First Documented Hip Arthroplasty on Chinese Patient with Ochronotic Arthropathy.Frontiers in surgery · 2022Article
- Alkaptonuria: clinical manifestations and an updated approach to treatment of a rare disease.BMJ case reports · 2021Article
- Preventive use of nitisinone in alkaptonuria.Orphanet journal of rare diseases · 2021Article
- A Mimic of Ankylosing Spondylitis, Ochronosis: Case Report and Review of the Literature.Current allergy and asthma reports · 2021Review
- Alkaptonuria in an adolescent boy.BMJ case reports · 2021Article
- Musculoskeletal manifestations of alkaptonuria: A case report and literature review.European journal of rheumatology · 2019Review
- Bone health in patients with inborn errors of metabolism.Reviews in endocrine & metabolic disorders · 2018Review
- Alkaptonuria Severity Score Index Revisited: Analysing the AKUSSI and Its Subcomponent Features.JIMD reports · 2018Article
- A role for interleukins in ochronosis in a chondrocyte in vitro model of alkaptonuria.Clinical rheumatology · 2016Article
- Progress in Alkaptonuria--are we near to an effective therapy?Journal of inherited metabolic disease · 2015Article
Corrections and comments
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Authors and funding
11 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Alkaptonuria (AKU) is caused by deficiency of the enzyme homogentisate 1,2 dioxygenase. It results in an accumulation of homogentisate which oxidizes spontaneously to benzoquinone acetate, a highly oxidant compound, which polymerises to a melanin-like structure, in a process called ochronosis. Asymptomatic during childhood, this accumulation will lead from the second decade of life to a progressive and severe spondylo-arthopathy, associated with multisystem involvement: osteoporosis/fractures, stones (renal, prostatic, gall bladder, salivary glands), ruptures of tendons/muscle/ligaments, renal failure and aortic valve disease. The pathophysiological mechanisms of AKU remain poorly understood, but recent advances lead us to reconsider the treatment strategy in AKU patients. Besides the supporting therapies (pain killers, anti-inflammatory drugs, physiotherapy, joints replacements and others), specific therapies have been considered (anti-oxidant, low protein diet, nitisinone), but clinical studies have failed to prove efficiency on the rheumatological lesions of the disease. Here we propose a treatment strategy for children and adults with AKU, based on a review of the latest findings on AKU and lessons from other aminoacipathies, especially tyrosinemias.
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