Volume 12, Issue 4 (2-2021)
2021, 12(4): 90-93 |
Back to browse issues page
Download citation:
BibTeX | RIS | EndNote | Medlars | ProCite | Reference Manager | RefWorks
Send citation to:
BibTeX | RIS | EndNote | Medlars | ProCite | Reference Manager | RefWorks
Send citation to:
Haghighi R, Shakouri P. A Report of A Rare Case: Tyrosinemia Type I In A 2-Year-Old Boy. North Khorasan University of Medical Sciences 2021; 12 (4) :90-93
URL: http://journal.nkums.ac.ir/article-1-2222-en.html
URL: http://journal.nkums.ac.ir/article-1-2222-en.html
1- MD, Associated Professor of Urology, Department of Urology, Faculty of Medicine, North Khorasan University of Medical Sciences, Bojnurd, Iran
2- Student Research Committee, North Khorasan University of Medical Sciences, Bojnurd, Iran ,pouyan.shakouri@gmail.com
2- Student Research Committee, North Khorasan University of Medical Sciences, Bojnurd, Iran ,
Abstract: (2292 Views)
Introduction: Tyrosinemia is a congenital metabolic disease in which the breakdown of the amino acid tyrosine is reduced and its amount is increased in the body. Tyrosine metabolites can involve specific organs that according to the clinical manifestations there are three types of this disease.
Case: This article reports type 1 tyrosinemia in a 2-year-old child who complained of urinary problem and restlessness. Despite the absence of pathological findings in fetal ultrasound screening, imaging findings indicate involvement of both kidneys.
Conclusions: It is a rare, inherited and metabolic disease that despite the challenges of diagnosis has simple cure.
Case: This article reports type 1 tyrosinemia in a 2-year-old child who complained of urinary problem and restlessness. Despite the absence of pathological findings in fetal ultrasound screening, imaging findings indicate involvement of both kidneys.
Conclusions: It is a rare, inherited and metabolic disease that despite the challenges of diagnosis has simple cure.
Type of Study: Case Report |
Subject:
Basic Sciences
Received: 2020/06/20 | Accepted: 2020/11/28 | Published: 2021/02/28
Received: 2020/06/20 | Accepted: 2020/11/28 | Published: 2021/02/28
Send email to the article author
| Rights and permissions | |
 |
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License. |
