ReviewThe application of clinical genetics2020
Alkaptonuria: Current Perspectives.
Review in The application of clinical genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
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Who cites it
32 citing papers in PubMed, 62 citations in OpenAlex.
- Alcaptonuria.Internal medicine (Tokyo, Japan) · 2026Article
- Phenylalanine-tyrosine-catecholamine axis disorders: pathways, molecular diagnosis, therapeutics, and emerging translational monitoring technologies.Frontiers in molecular biosciences · 2026Review
- Harliku (nitisinone): first FDA-approved disease-modifying therapy for alkaptonuria.Annals of medicine and surgery (2012) · 2025Article
- 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
- Transcatheter Aortic Valve Implantation in Alkaptonuria-Аssociated Severe Aortic Stenosis: A 2.5-Year Follow-Up Case Report and Literature Review.Life (Basel, Switzerland) · 2025Article
- Alkaptonuria: Clinical Spectrum of a Diagnosed Case in Bahrain With a Literature Review.Cureus · 2025Article
- Gene expression & biochemical analysis in alkaptonuria caused by a founder pathogenic variant across different age groups from India.The Indian journal of medical research · 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
- Review
- Anaesthesia Considerations in a Case of Alkaptonuria Posted for Total Knee Arthroplasty.Cureus · 2024Article
- Alkaptonuria.Nature reviews. Disease primers · 2024Review
- Genetic risk score for insulin resistance based on gene variants associated to amino acid metabolism in young adults.PloS one · 2024Article
- Non-cemented Total Hip Arthroplasty in a Rare Case with Black Hip, A Case Report.Advanced biomedical research · 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
- Ochronotic Chondropathy: A Case Report.Biomedicines · 2023Article
- [Research advances in pharmacotherapy for rare diseases in children].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2023Review
- Identification of Potential Inhibitors for the Treatment of Alkaptonuria Using an Integrated In Silico Computational Strategy.Molecules (Basel, Switzerland) · 2023Article
- Article
Corrections and comments
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Authors and funding
3 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The last 15 years have been the most fruitful in the history of research on the metabolic disorder alkaptonuria (AKU). AKU is caused by a deficiency of homogentisate dioxygenase (HGD), the enzyme involved in metabolism of tyrosine, and is characterized by the presence of dark ochronotic pigment in the connective tissue that is formed, due to high levels of circulating homogentisic acid. Almost 120 years ago, Sir Archibald Garrod used AKU to illustrate the concept of Mendelian inheritance in man. In January 2019, the phase III clinical study SONIA 2 was completed, which tested the effectiveness and safety of nitisinone in the treatment of AKU. Results were positive, and they will serve as the basis for the application for registration of nitisinone for treatment of AKU at the European Medicines Agency. Therefore, AKU might become a rare disease for which a cure will be found by 2020. We understand the natural history of the disease and the process of ochronosis much more, but at the same time there are still unanswered questions. One of them is the issue of the factors influencing the varying severity of the disease, since our recent genotype-phenotype study did not show that differences in residual homogentisic acid activity caused by the different mutations was responsible. Although nitisinone has proved to arrest the process of ochronosis, it has some unwanted effects and does not cure the disease completely. As such, enzyme replacement or gene therapy might become a new focus of AKU research, for which a novel suitable mouse model of AKU is available already. We believe that the story of AKU is also a story of effective collaboration between scientists and patients that might serve as an example for other rare diseases.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.