Journal of Child

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Case Report


DOI :10.5222/j.child.2011.078   IUP :10.5222/j.child.2011.078    Full Text (PDF)

An Early Detected Alkaptonuria: Case Report

Resul Yılmaz, Mustafa Özçetin, Erhan Karaarslan, Haluk Esmeray

Alkaptonuria is the first described autosomal recessive inherited metabolic disorder. Signs and symptoms appear with deposition of homogentisic acid and its metabolites in the connective tissue due to homogentisic acid oxidase deficiency. In this article a case of 7- year old girl is presentedreferred with the complaints of fever and short stature, and diagnosed as a case of alkaptonuria with the guiding diagnostic clue of discoloration of urine.

Keywords: Alkaptonuria, children, early diagnosis
DOI :10.5222/j.child.2011.078   IUP :10.5222/j.child.2011.078    Full Text (PDF)

Erken Tespit Edilen Alkaptonüri: Vaka Sunumu

Resul Yılmaz, Mustafa Özçetin, Erhan Karaarslan, Haluk Esmeray

Alkaptonüri, ender görülen, otozomal resesif geçişli, tanımlanmış ilk doğumsal metabolik hastalıktır. Homogentisik asit oksidaz enzim yetersizliğine bağlı olarak homogentisik asit ve metabolitlerinin bağ dokusunda birikmesi ile hastalık belirtileri ortaya çıkar. Ateş yüksekliği ve boy kısalığı nedeniyle başvuran kız hastada idrarda renk değişikliğinin ayrıcı tanıda yol gösterici olduğu, erken yaşta tespit edilen alkaptonüri vakası sunulmuştur.

Keywords: Alkaptonüri, çocuk, erken tanı

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Citations

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APA

Yılmaz, R., Özçetin, M., Karaarslan, E., & Esmeray, H. (2011). An Early Detected Alkaptonuria: Case Report. Journal of Child, 11(2), 78-80. https://doi.org/10.5222/j.child.2011.078


AMA

Yılmaz R, Özçetin M, Karaarslan E, Esmeray H. An Early Detected Alkaptonuria: Case Report. Journal of Child. 2011;11(2):78-80. https://doi.org/10.5222/j.child.2011.078


ABNT

Yılmaz, R.; Özçetin, M.; Karaarslan, E.; Esmeray, H. An Early Detected Alkaptonuria: Case Report. Journal of Child, [Publisher Location], v. 11, n. 2, p. 78-80, 2011.


Chicago: Author-Date Style

Yılmaz, Resul, and Mustafa Özçetin and Erhan Karaarslan and Haluk Esmeray. 2011. “An Early Detected Alkaptonuria: Case Report.” Journal of Child 11, no. 2: 78-80. https://doi.org/10.5222/j.child.2011.078


Chicago: Humanities Style

Yılmaz, Resul, and Mustafa Özçetin and Erhan Karaarslan and Haluk Esmeray. “An Early Detected Alkaptonuria: Case Report.” Journal of Child 11, no. 2 (Aug. 2025): 78-80. https://doi.org/10.5222/j.child.2011.078


Harvard: Australian Style

Yılmaz, R & Özçetin, M & Karaarslan, E & Esmeray, H 2011, 'An Early Detected Alkaptonuria: Case Report', Journal of Child, vol. 11, no. 2, pp. 78-80, viewed 14 Aug. 2025, https://doi.org/10.5222/j.child.2011.078


Harvard: Author-Date Style

Yılmaz, R. and Özçetin, M. and Karaarslan, E. and Esmeray, H. (2011) ‘An Early Detected Alkaptonuria: Case Report’, Journal of Child, 11(2), pp. 78-80. https://doi.org/10.5222/j.child.2011.078 (14 Aug. 2025).


MLA

Yılmaz, Resul, and Mustafa Özçetin and Erhan Karaarslan and Haluk Esmeray. “An Early Detected Alkaptonuria: Case Report.” Journal of Child, vol. 11, no. 2, 2011, pp. 78-80. [Database Container], https://doi.org/10.5222/j.child.2011.078


Vancouver

Yılmaz R, Özçetin M, Karaarslan E, Esmeray H. An Early Detected Alkaptonuria: Case Report. Journal of Child [Internet]. 14 Aug. 2025 [cited 14 Aug. 2025];11(2):78-80. Available from: https://doi.org/10.5222/j.child.2011.078 doi: 10.5222/j.child.2011.078


ISNAD

Yılmaz, Resul - Özçetin, Mustafa - Karaarslan, Erhan - Esmeray, Haluk. “An Early Detected Alkaptonuria: Case Report”. Journal of Child 11/2 (Aug. 2025): 78-80. https://doi.org/10.5222/j.child.2011.078



TIMELINE


Published Online30.12.2011

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