From darkening urine to early diagnosis of alkaptonuria

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dc.authoridYonden, Zafer/0000-0003-0708-5417
dc.contributor.authorPeker, Erdal
dc.contributor.authorYonden, Zafer
dc.contributor.authorSogut, Sadik
dc.date.accessioned2024-09-18T19:52:35Z
dc.date.available2024-09-18T19:52:35Z
dc.date.issued2008
dc.departmentHatay Mustafa Kemal Üniversitesien_US
dc.description.abstractAlkaptonuria is a rare disorder of metabolism characterized by deficiency of homogentisic acid oxidase. Characteristic features include darkening of urine, ochronosis, and arthropathy. Darkening of urine is the only sign of the disorder in the pediatric age group, and it occurs at very early stage of the disorder, as reported by the parents. A 4-year-old boy presented to our clinic with the complaint of dark urine and bluish black staining of clothes. This darkening pointed to a positive physical history of bluish discoloration of sclerae which occurred off and on. We initiated treatment with ascorbic acid and a protein diet with restriction of phenylalanine and tyrosine (1.6 g/kg/d). This case report is significant because of the early diagnosis made.en_US
dc.identifier.doi10.4103/0378-6323.45142
dc.identifier.endpageU8en_US
dc.identifier.issn0378-6323
dc.identifier.issue6en_US
dc.identifier.pmid19180686en_US
dc.identifier.scopus2-s2.0-59149096150en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage700en_US
dc.identifier.urihttps://doi.org/10.4103/0378-6323.45142
dc.identifier.urihttps://hdl.handle.net/20.500.12483/7536
dc.identifier.volume74en_US
dc.identifier.wosWOS:000262907400046en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherMedknow Publicationsen_US
dc.relation.ispartofIndian Journal of Dermatology Venereology & Leprologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectAlkaptonuriaen_US
dc.subjectblue scleraeen_US
dc.subjectdark urineen_US
dc.subjecthomogentisic aciden_US
dc.titleFrom darkening urine to early diagnosis of alkaptonuriaen_US
dc.typeArticleen_US

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