ArticleRheumatology international2012
Identification of forty cases with alkaptonuria in one village in Jordan.
Article in Rheumatology international, 2012. 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, 21 citations in OpenAlex.
- Alkaptonuria.Nature reviews. Disease primers · 2024Review
- Reverse Total Shoulder Arthroplasty in Alkaptonuric Shoulder: Case Presentation, Review of Literature, and Technical Considerations.Orthopedic research and reviews · 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
- Development of an Effective Therapy for Alkaptonuria - Lessons for Osteoarthritis.Rheumatology and immunology research · 2021Review
- Cervical Myelopathy Due to Ochronosis: An Intraoperative Suspicion.The American journal of case reports · 2020Article
- A rare presentation of alkaptonuria: Extensive prostatic calculi with highlight of stones found in a unique paraprostatic urethral diverticulum.International journal of surgery case reports · 2017Article
- Spontaneous Achilles tendon rupture in alkaptonuria.Saudi medical journal · 2015Article
- Brown urine and black hip.CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne · 2012Article
- Urological Aspects in Patients with Alkaptonuria: A Case-Control Study.American journal of men's healthArticle
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Alkaptonuria (AKU) is one of the four initially identified inborn errors of metabolism. The prevalence of AKU is unknown in Jordan. Therefore, a research project was started in April 2009 at the Faculty of Medicine/Mutah University in southern Jordan. The aims of the project were to identify people with AKU, to screen all family members with history of AKU, and to increase the awareness about the disease among health care professionals and the community in southern Jordan. Targeted family screening method was used to identify patients with AKU. In this paper, we present preliminary results of screening 17 families with history of AKU in a single village in southern region of Jordan. Forty cases with AKU were identified in this village (age range, 1-60 years). Early cases with AKU were diagnosed through out this study, two-third of patients (n = 28) were under the age of thirty. Interestingly, nine cases with AKU were identified in one family. Our experience suggests that for the identification of cases with AKU where consanguinity is common, the focus for screening should be extended to all family members. The prevalence of AKU among Jordanian is likely to be greater than the prevalence rates worldwide due to high rates of consanguineous marriages. Further studies and effective screening programs are needed to detect undiagnosed cases of AKU, to provide genetic counseling, and ultimately to prevent the occurrence of new cases of AKU in Jordan.
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