ReviewNature reviews. Disease primers2024
Alkaptonuria.
Review in Nature reviews. Disease primers, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 1 of them a synthesis that pooled it.
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
23 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Diagnosis of Inherited Metabolic Disease in Older Patients: A Systematic Literature Review.Journal of inherited metabolic disease · 2025Pooled it
- Shikimate crosstalk enables record-level homogentisic acid production inSynthetic and systems biotechnology · 2026Article
- A case of alkaptonuria diagnosed after hip arthroplasty.Clinical rheumatology · 2026Article
- Plasma Proteomic Signatures in Alkaptonuria.Biology · 2026Article
- iTRAQ- and MRM-Based Proteomics Identify Early Injury Biomarkers for Primary Dysfunction After Liver Transplantation.Annals of transplantation · 2026Article
- HGA-Induced Oxidative Stress Impairs Autophagy via Lysosomal Dysfunction in Alkaptonuria.Antioxidants (Basel, Switzerland) · 2026Article
- Quantifying the Functional Gap in Alkaptonuria Through Machine Learning and Clinical Data Integration.Bioengineering (Basel, Switzerland) · 2026Article
- Alkaptonuria in two Colombian patients: identification of HGD variants including a novel finding.BMC medical genomics · 2026Article
- Molecular characterization of Alkaptonuria in Brazilian patients.Molecular genetics and metabolism reports · 2026Article
- Case Report: Ochronotic arthropathy mimicking spondyloarthritis: a case-based review of diagnostic pitfalls and a novel likely pathogenic HGD variant.Frontiers in genetics · 2026Article
- Ochronotic arthropathy mimicking degenerative osteoarthritis in an older adult with alkaptonuria: diagnostic and perioperative lessons from a case report.Frontiers in medicine · 2026Article
- Pathological Fractures in Rare Bone Diseases: Clinical Cases.Acta medica Lituanica · 2026Article
- 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
- Alkaptonuria: a rare disorder associated with common conditions.Internal and emergency medicine · 2025Article
- Article
- Combined alkaptonuria and osteoporosis contributing to chronic back pain.Endocrinology, diabetes & metabolism case reports · 2025Article
- Diagnosing alkaptonuria-related nephropathy with urine albumin analysis.Pediatric nephrology (Berlin, Germany) · 2025Article
- A Comprehensive In Vitro and In Silico Approach for Targeting 4-Hydroxyphenyl Pyruvate Dioxygenase: Towards New Therapeutics for Alkaptonuria.International journal of molecular sciences · 2025Article
- An in vitro cell model for exploring inflammatory and amyloidogenic events in alkaptonuria.Journal of cellular physiology · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors.
Funding
Abstract
Alkaptonuria is a rare inborn error of metabolism caused by the deficiency of homogentisate 1,2-dioxygenase activity. The consequent homogentisic acid (HGA) accumulation in body fluids and tissues leads to a multisystemic and highly debilitating disease whose main features are dark urine, ochronosis (HGA-derived pigment in collagen-rich connective tissues), and a painful and severe form of osteoarthropathy. Other clinical manifestations are extremely variable and include kidney and prostate stones, aortic stenosis, bone fractures, and tendon, ligament and/or muscle ruptures. As an autosomal recessive disorder, alkaptonuria affects men and women equally. Debilitating symptoms appear around the third decade of life, but a proper and timely diagnosis is often delayed due to their non-specific nature and a lack of knowledge among physicians. In later stages, patients' quality of life might be seriously compromised and further complicated by comorbidities. Thus, appropriate management of alkaptonuria requires a multidisciplinary approach, and periodic clinical evaluation is advised to monitor disease progression, complications and/or comorbidities, and to enable prompt intervention. Treatment options are patient-tailored and include a combination of medications, physical therapy and surgery. Current basic and clinical research focuses on improving patient management and developing innovative therapies and implementing precision medicine strategies.
Indexed as
Identifiers
38453957What 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.