ArticleJournal of inherited metabolic disease2011
An update on molecular genetics of Alkaptonuria (AKU).
Article in Journal of inherited metabolic disease, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers, 1 of them a synthesis that pooled it.
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Who cites it
46 citing papers in PubMed, 1 synthesis or guideline pooled it, 102 citations in OpenAlex.
- On the ocular findings in ochronosis: a systematic review of literature.BMC ophthalmology · 2014Pooled it
- Homogentisate 1,2-dioxygenase (HGD) gene variants, their analysis and genotype-phenotype correlations in the largest cohort of patients with AKU.European journal of human genetics : EJHG · 2019Trial
- Total hip arthroplasty in patients with alkaptonuria: a case report.Frontiers in surgery · 2026Article
- Harliku (nitisinone): first FDA-approved disease-modifying therapy for alkaptonuria.Annals of medicine and surgery (2012) · 2025Article
- Alkaptonuria presenting as lumbar degenerative disease: A case report and literature review.Medicine · 2025Review
- Blackish Discoloration of Articular Cartilage during Total Knee Replacement; a Case Report.Journal of orthopaedic case reports · 2024Article
- Ochronotic Arthropathy and Alkaptonuria (Ochronosis): Case Report.Revista brasileira de ortopedia · 2024Article
- Alkaptonuria.Nature reviews. Disease primers · 2024Review
- Ochronotic Chondropathy: A Case Report.Biomedicines · 2023Article
- Identification of Potential Inhibitors for the Treatment of Alkaptonuria Using an Integrated In Silico Computational Strategy.Molecules (Basel, Switzerland) · 2023Article
- A robust bacterial high-throughput screening system to evaluate single nucleotide polymorphisms of human homogentisate 1,2-dioxygenase in the context of alkaptonuria.Scientific reports · 2022Article
- Metabolomic studies in the inborn error of metabolism alkaptonuria reveal new biotransformations in tyrosine metabolism.Genes & diseases · 2022Article
- HGDiscovery: An online tool providing functional and phenotypic information on novel variants of homogentisate 1,2- dioxigenase.Current research in structural biology · 2022Article
- Alkaptonuria: clinical manifestations and an updated approach to treatment of a rare disease.BMJ case reports · 2021Article
- A novel deep intronic variant strongly associates with Alkaptonuria.NPJ genomic medicine · 2021Article
- The Black Knee - A Case Report.Journal of orthopaedic case reports · 2021Article
- Development of an Effective Therapy for Alkaptonuria - Lessons for Osteoarthritis.Rheumatology and immunology research · 2021Review
- Pigmentation Chemistry and Radical-Based Collagen Degradation in Alkaptonuria and Osteoarthritic Cartilage.Angewandte Chemie (International ed. in English) · 2020Article
- Fatal acute haemolysis and methaemoglobinaemia in a man with renal failure and Alkaptonuria - Is nitisinone the solution?Molecular genetics and metabolism reports · 2020Article
- Total knee arthroplasty for Ochronosis induced knee arthropathy. Case report.International journal of surgery case reports · 2020Article
Corrections and comments
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Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Alkaptonuria (AKU) is an autosomal recessive disorder caused by a deficiency of homogentisate 1,2 dioxygenase (HGD) and characterized by homogentisic aciduria, ochronosis, and ochronotic arthritis. The defect is caused by mutations in the HGD gene, which maps to the human chromosome 3q21-q23. AKU shows a very low prevalence (1:100,000-250,000) in most ethnic groups, but there are countries such as Slovakia and the Dominican Republic in which the incidence of this disorder rises to as much as 1:19,000. In this work, we summarize the genetic aspects of AKU in general and the distribution of all known disease-causing mutations reported so far. We focus on special features of AKU in Slovakia, which is one of the countries with an increased incidence of this rare metabolic disorder.
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Registered trials
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.