ArticleJIMD reports2020
A patient survey on the impact of alkaptonuria symptoms as perceived by the patients and their experiences of receiving diagnosis and care.
Article in JIMD reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 17 citations in OpenAlex.
- Quantifying the Functional Gap in Alkaptonuria Through Machine Learning and Clinical Data Integration.Bioengineering (Basel, Switzerland) · 2026Article
- Early-Onset Degenerative Bone Changes as a Manifestation of Alkaptonuria: A Case Report.Cureus · 2025Article
- Alkaptonuria: Clinical Spectrum of a Diagnosed Case in Bahrain With a Literature Review.Cureus · 2025Article
- 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
- Persistent suffering: Living experiences of patients with rare disease: An interpretative phenomenological study.Journal of education and health promotion · 2023Article
- Clinical development innovation in rare diseases: lessons learned and best practices from the DevelopAKUre consortium.Orphanet journal of rare diseases · 2021Article
- Alkaptonuria: clinical manifestations and an updated approach to treatment of a rare disease.BMJ case reports · 2021Article
- A patient survey on the impact of alkaptonuria symptoms as perceived by the patients and their experiences of receiving diagnosis and care.JIMD reports · 2020Article
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Authors and funding
4 authors at 3 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAlkaptonuria (AKU) is an ultrarare and multifaceted disease characterized by the absence of functional homogentisate 1,2-dioxygenase activity, the enzyme responsible for breakdown of homogentisic acid-a tyrosine-degradation product. The presymptomatic phase of the disease makes diagnosis difficult, with many patients unidentified or diagnosed late in life.
objectiveTo date, no study has analyzed the perceived impact of different symptoms or the experiences of individuals through the patient journey in the context of AKU. This study aimed to examine patients' perceptions of AKU symptoms and their impact on quality of life as well as patients' experiences of being diagnosed and living with the disease.
methodsData for this study were collected using a quantitative self-report questionnaire administered online to people with AKU.
resultsData from 45 participants indicate that symptoms with the highest impact for patients are those related to pain and ruptures, disability and inability to perform normal routines, emotional/mental health issues, and heart complications. Findings also revealed significant delays in contact with healthcare services and time to diagnosis. Furthermore, patients reported difficulty in receiving information about AKU, treatment and care, and long-term disease management support.
conclusionsTime to diagnosis and care of AKU is significantly delayed. Symptoms of AKU with the highest impact on quality of life for patients are those related to pain and disability and the inability to perform normal routines. Bridging any gaps between patients with AKU and healthcare professionals through education could help improve patients' experiences with AKU through the patient journey.
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