Citrullinemia type I and hypertrophic pyloric stenosis in a 1-month old male infant

  • Yoona Rhee Department of Internal Medicine and Pediatrics & Communicable Diseases, University of Michigan, Ann Arbor, MI, United States.
  • Todd Heaton Division of Pediatric Surgery, Department of Surgery, University of Michigan, Ann Arbor, MI, United States.
  • Catherine Keegan Division of Pediatric Genetics, Department of Pediatrics & Communicable Diseases, University of Michigan, Ann Arbor, MI, United States.
  • Ayesha Ahmad | ayeshaah@med.umich.edu Division of Pediatric Genetics, Department of Pediatrics & Communicable Diseases, University of Michigan, Ann Arbor, MI, United States.

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.

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Published
2013-01-25
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Section
Case Reports
Keywords:
citrullinemia, hyperammonemia, pyloric stenosis, vomiting
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How to Cite
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