ReviewRare diseases (Austin, Tex.)2013
Alkaptonuria.
Review in Rare diseases (Austin, Tex.), 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 54 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
54 citing papers in PubMed, 104 citations in OpenAlex.
- Clinical and molecular characteristics of Chinese patients with alkaptonuria: 4-year follow-up of a pediatric patient and literature review.Molecular genetics and metabolism reports · 2025Article
- Functional Characterization ofInternational journal of molecular sciences · 2025Article
- Ochronotic Deposition in Alkaptonuria: Semiquinone-Mediated Oxidative Coupling and Metabolic Drivers of Homogentisic Acid Accumulation.International journal of molecular sciences · 2025Article
- A Rare Diagnosis in a Resource-Limited Setting: Alkaptonuria in a Young Dominican Child.Cureus · 2025Article
- Article
- Video-Assisted Minimally Invasive Endoscopic Aortic Valve Replacement in a Patient With Alkaptonuria.JACC. Case reports · 2025Article
- First Documented Hip Replacement in a Palestinian Patient with Ochronotic Alkaptonuria Arthropathy: A Case Report.Journal of orthopaedic case reports · 2025Article
- Alkaptonuria: a rare disease with multiorgan manifestation and a long-awaited diagnosis.BMJ case reports · 2024Article
- Ochronotic Arthropathy and Alkaptonuria (Ochronosis): Case Report.Revista brasileira de ortopedia · 2024Article
- A case of alkaptonuria presenting with unexplained dark-stained diapers and spurious hyperoxaluria and proteinuria due to homogentisic acid interference.Biochemia medica · 2024Article
- HGA Triggers SAA Aggregation and Accelerates Fibril Formation in the C20/A4 Alkaptonuria Cell Model.Cells · 2024Article
- Alkaptonuria with Fracture Neck of Femur - A Case Report.Journal of orthopaedic case reports · 2024Article
- Managing Alkaptonuria in Absence of Appropriate Medication: A Case Report and Review of Literature.Clinical medicine & research · 2024Review
- Alkaptonuria.Nature reviews. Disease primers · 2024Review
- 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
- Non-cemented Total Hip Arthroplasty in a Rare Case with Black Hip, A Case Report.Advanced biomedical research · 2024Article
- Article
- Ochronotic Chondropathy: A Case Report.Biomedicines · 2023Article
- Homogentisate 1,2-dioxygenase (HGD) gene variants in young Egyptian patients with alkaptonuria.Scientific reports · 2023Article
- Oleic Acid-Containing Phosphatidylinositol Is a Blood Biomarker Candidate for SPG28.Biomedicines · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Alkaptonuria (AKU) is a rare disorder of autosomal recessive inheritance. It is caused by a mutation in a gene that results in the accumulation of homogentisic acid (HGA). Characteristically, the excess HGA means sufferers pass dark urine, which upon standing turns black. This is a feature present from birth. Over time patients develop other manifestations of AKU, due to deposition of HGA in collagenous tissues, namely ochronosis and ochronotic osteoarthropathy. Although this condition does not reduce life expectancy, it significantly affects quality of life. The natural history of this condition is becoming better understood, despite gaps in knowledge. Clinical assessment of the condition has also improved along with the development of a potentially disease-modifying therapy. Furthermore, recent developments in AKU research have led to new understanding of the disease, and further study of the AKU arthropathy has the potential to influence therapy in the management of osteoarthritis.
Indexed as
Identifiers
What OpenQuestion holds
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.