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Clinics and Practice
Volume 3
Issue 1
10.4081/cp.2013.e2
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Clinics and Practice is published by MDPI from Volume 11 Issue 1 (2021). Previous articles were published by another publisher in Open Access under a CC-BY (or CC-BY-NC-ND) licence, and they are hosted by MDPI on mdpi.com as a courtesy and upon agreement with PAGEPress.
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Case Report

Citrullinemia Type I and Hypertrophic Pyloric Stenosis in a 1-Month Old Male Infant

by
Yoona Rhee
1,
Todd Heaton
2,
Catherine Keegan
3,* and
Ayesha Ahmad
3,*
1
Department of Internal Medicine and Pediatrics & Communicable Diseases, University of Michigan, Ann Arbor, MI, USA
2
Division of Pediatric Surgery, Department of Surgery, University of Michigan, Ann Arbor, MI, USA
3
Division of Pediatric Genetics, Department of Pediatrics & Communicable Diseases, University of Michigan, Ann Arbor, MI, USA
*
Authors to whom correspondence should be addressed.
Clin. Pract. 2013, 3(1), e2; https://doi.org/10.4081/cp.2013.e2
Submission received: 25 October 2012 / Revised: 25 October 2012 / Accepted: 6 December 2012 / Published: 25 January 2013

Abstract

Citrullinemia type I (CTLN1) is an inherited urea cycle disorder, now included in most newborn screening panels in the US and Europe. Due to argininosuccinate synthetase deficiency, CTLN1 can lead to recurrent hyperammonemic crisis that may result in permanent neurologic sequelae. Vomiting in patients with urea cycle disorders may either be the result or cause of acute hyperammonemia, particularly if due to an illness that leads to catabolism. Therefore, age-appropriate common etiologies of vomiting must be considered when evaluat- ing these patients. We present a 1-month old male infant with CTLN1 who had a 1-week history of vomiting and was discovered to have hypertrophic pyloric stenosis. This is the first documented case of an infant with CTLN1 who was later diagnosed with hypertrophic pyloric stenosis, and only the second case of concomitant disease.
Keywords: citrullinemia; hyperammonemia; pyloric stenosis; vomiting citrullinemia; hyperammonemia; pyloric stenosis; vomiting

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MDPI and ACS Style

Rhee, Y.; Heaton, T.; Keegan, C.; Ahmad, A. Citrullinemia Type I and Hypertrophic Pyloric Stenosis in a 1-Month Old Male Infant. Clin. Pract. 2013, 3, e2. https://doi.org/10.4081/cp.2013.e2

AMA Style

Rhee Y, Heaton T, Keegan C, Ahmad A. Citrullinemia Type I and Hypertrophic Pyloric Stenosis in a 1-Month Old Male Infant. Clinics and Practice. 2013; 3(1):e2. https://doi.org/10.4081/cp.2013.e2

Chicago/Turabian Style

Rhee, Yoona, Todd Heaton, Catherine Keegan, and Ayesha Ahmad. 2013. "Citrullinemia Type I and Hypertrophic Pyloric Stenosis in a 1-Month Old Male Infant" Clinics and Practice 3, no. 1: e2. https://doi.org/10.4081/cp.2013.e2

APA Style

Rhee, Y., Heaton, T., Keegan, C., & Ahmad, A. (2013). Citrullinemia Type I and Hypertrophic Pyloric Stenosis in a 1-Month Old Male Infant. Clinics and Practice, 3(1), e2. https://doi.org/10.4081/cp.2013.e2

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