{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,14]],"date-time":"2026-02-14T06:15:11Z","timestamp":1771049711219,"version":"3.50.1"},"reference-count":17,"publisher":"Springer Science and Business Media LLC","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,1,9]]},"DOI":"10.7759\/cureus.77174","type":"journal-article","created":{"date-parts":[[2025,1,9]],"date-time":"2025-01-09T08:34:52Z","timestamp":1736411692000},"source":"Crossref","is-referenced-by-count":1,"title":["Alkaptonuria: Clinical Spectrum of a Diagnosed Case in Bahrain With a Literature Review"],"prefix":"10.7759","author":[{"given":"Zahra","family":"Alsahlawi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Layla I","family":"Salman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amina M","family":"Alaradi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fatema","family":"Hamada","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Huda S","family":"Alsahlawi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zahra M","family":"Ali","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1177\/1557988320969310","article-title":"Urological aspects in patients with alkaptonuria: a case-control study","volume":"14","author":"Suoub M","year":"2020","unstructured":"Suoub M, Alsbou M, Sawaqed F. Urological aspects in patients with alkaptonuria: a case-control study. Am J Mens Health. 2020, 14:1557988320969310. 10.1177\/1557988320969310","journal-title":"Am J Mens Health"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1038\/s41525-021-00252-2","article-title":"A novel deep intronic variant strongly associates with alkaptonuria","volume":"6","author":"Lai CY","year":"2021","unstructured":"Lai CY, Tsai IJ, Chiu PC, et al.. A novel deep intronic variant strongly associates with alkaptonuria. NPJ Genom Med. 2021, 6:89. 10.1038\/s41525-021-00252-2","journal-title":"NPJ Genom Med"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-023-41200-7","article-title":"Homogentisate 1,2-dioxygenase (HGD) gene variants in young Egyptian patients with alkaptonuria","volume":"13","author":"Abdelkhalek ZS","year":"2023","unstructured":"Abdelkhalek ZS, Mahmoud IG, Omair H, Abdulhay M, Elmonem MA. Homogentisate 1,2-dioxygenase (HGD) gene variants in young Egyptian patients with alkaptonuria. Sci Rep. 2023, 13:14374. 10.1038\/s41598-023-41200-7","journal-title":"Sci Rep"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1002\/jmd2.12101","article-title":"A patient survey on the impact of alkaptonuria symptoms as perceived by the patients and their experiences of receiving diagnosis and care","volume":"53","author":"Rudebeck M","year":"2020","unstructured":"Rudebeck M, Scott C, Sireau N, Ranganath L. A patient survey on the impact of alkaptonuria symptoms as perceived by the patients and their experiences of receiving diagnosis and care. JIMD Rep. 2020, 53:71-9. 10.1002\/jmd2.12101","journal-title":"JIMD Rep"},{"key":"ref5","article-title":"Incidentally discovered ochronosis explaining decades of chronic pain","volume":"37","author":"Reyes A","year":"2020","unstructured":"Reyes A, Hashemi L. Incidentally discovered ochronosis explaining decades of chronic pain. Fed Pract. 2020, 37:48-52.","journal-title":"Fed Pract"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.3390\/metabo12100990","article-title":"Analysis of the phenotype differences in siblings with alkaptonuria","volume":"12","author":"Zatkova A","year":"2022","unstructured":"Zatkova A, Olsson B, Ranganath LR, Imrich R. Analysis of the phenotype differences in siblings with alkaptonuria. Metabolites. 2022, 12:990. 10.3390\/metabo12100990","journal-title":"Metabolites"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1002\/jmd2.12255","article-title":"Effects of a protein-restricted diet on body weight and serum tyrosine concentrations in patients with alkaptonuria","volume":"63","author":"Olsson B","year":"2022","unstructured":"Olsson B, Ranganath L, Arnoux JB, Imrich R, Milan A, Rudebeck M. Effects of a protein-restricted diet on body weight and serum tyrosine concentrations in patients with alkaptonuria. JIMD Rep. 2022, 63:41-9. 10.1002\/jmd2.12255","journal-title":"JIMD Rep"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.2147\/TACG.S186773","article-title":"Alkaptonuria: current perspectives","volume":"13","author":"Zatkova A","year":"2020","unstructured":"Zatkova A, Ranganath L, Kadasi L. Alkaptonuria: current perspectives. Appl Clin Genet. 2020, 13:37-47. 10.2147\/TACG.S186773","journal-title":"Appl Clin Genet"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21120","article-title":"Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria","volume":"30","author":"Vilboux T","year":"2009","unstructured":"Vilboux T, Kayser M, Introne W, et al.. Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria. Hum Mutat. 2009, 30:1611-9. 10.1002\/humu.21120","journal-title":"Hum Mutat"},{"key":"ref10","unstructured":"National Center for Biotechnology Information. (2023). Accessed. December 30, 2024: https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/variation\/371063\/."},{"key":"ref11","unstructured":"Classification of protein families. (2024). Accessed. December 30, 2024: https:\/\/www.ebi.ac.uk\/interpro\/protein\/UniProt\/Q93099\/."},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.37.7.539","article-title":"Novel mutations in the homogentisate-1,2-dioxygenase gene identified in Slovak patients with alkaptonuria","volume":"37","author":"Zatkov\u00e1 A","year":"2000","unstructured":"Zatkov\u00e1 A, Polakov\u00e1 H, Micutkov\u00e1 L, et al.. Novel mutations in the homogentisate-1,2-dioxygenase gene identified in Slovak patients with alkaptonuria. J Med Genet. 2000, 37:539-42. 10.1136\/jmg.37.7.539","journal-title":"J Med Genet"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.5152\/eurjrheum.2018.18116","article-title":"Musculoskeletal manifestations of alkaptonuria: a case report and literature review","volume":"6","author":"Wu K","year":"2019","unstructured":"Wu K, Bauer E, Myung G, Fang MA. Musculoskeletal manifestations of alkaptonuria: a case report and literature review. Eur J Rheumatol. 2019, 6:98-101. 10.5152\/eurjrheum.2018.18116","journal-title":"Eur J Rheumatol"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.3389\/fsurg.2022.1040715","article-title":"Case report: thoracolumbar spinal stenosis associated with alkaptonuria","volume":"9","author":"Ding H","year":"2022","unstructured":"Ding H, Wang L, Feng GJ, Song YM, Liu LM. Case report: thoracolumbar spinal stenosis associated with alkaptonuria. Front Surg. 2022, 9:1040715. 10.3389\/fsurg.2022.1040715","journal-title":"Front Surg"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1136\/annrheumdis-2014-206033","article-title":"Suitability Of Nitisinone In Alkaptonuria 1 (SONIA 1): an international, multicentre, randomised, open-label, no-treatment controlled, parallel-group, dose-response study to investigate the effect of once daily nitisinone on 24-h urinary homogentisic acid excretion in patients with alkaptonuria after 4 weeks of treatment","volume":"75","author":"Ranganath LR","year":"2016","unstructured":"Ranganath LR, Milan AM, Hughes AT, et al.. Suitability Of Nitisinone In Alkaptonuria 1 (SONIA 1): an international, multicentre, randomised, open-label, no-treatment controlled, parallel-group, dose-response study to investigate the effect of once daily nitisinone on 24-h urinary homogentisic acid excretion in patients with alkaptonuria after 4 weeks of treatment. Ann Rheum Dis. 2016, 75:362-7. 10.1136\/annrheumdis-2014-206033","journal-title":"Ann Rheum Dis"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1016\/S2213-8587(20)30228-X","article-title":"Efficacy and safety of once-daily nitisinone for patients with alkaptonuria (SONIA 2): an international, multicentre, open-label, randomised controlled trial","volume":"8","author":"Ranganath LR","year":"2020","unstructured":"Ranganath LR, Psarelli EE, Arnoux JB, et al.. Efficacy and safety of once-daily nitisinone for patients with alkaptonuria (SONIA 2): an international, multicentre, open-label, randomised controlled trial. Lancet Diabetes Endocrinol. 2020, 8:762-72. 10.1016\/S2213-8587(20)30228-X","journal-title":"Lancet Diabetes Endocrinol"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1016\/j.amsu.2022.104340","article-title":"Adequacy of nitisinone for the management of alkaptonuria","volume":"80","author":"Abbas K","year":"2022","unstructured":"Abbas K, Basit J, Rehman ME. Adequacy of nitisinone for the management of alkaptonuria. Ann Med Surg (Lond). 2022, 80:104340. 10.1016\/j.amsu.2022.104340","journal-title":"Ann Med Surg (Lond)"}],"container-title":["Cureus"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cureus.com\/articles\/327479-alkaptonuria-clinical-spectrum-of-a-diagnosed-case-in-bahrain-with-a-literature-review","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,1,9]],"date-time":"2025-01-09T08:34:55Z","timestamp":1736411695000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cureus.com\/articles\/327479-alkaptonuria-clinical-spectrum-of-a-diagnosed-case-in-bahrain-with-a-literature-review"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,1,9]]},"references-count":17,"URL":"https:\/\/doi.org\/10.7759\/cureus.77174","relation":{},"ISSN":["2168-8184"],"issn-type":[{"value":"2168-8184","type":"print"}],"subject":[],"published":{"date-parts":[[2025,1,9]]}}}