Abstract

T) and a heterozygous mutation p.W179R (c.535C>T). Urea cycle disorders should be considered in the differential diagnosis of unexplained brief apnea or hypoventilation attacks, even though those symptoms do not lead to hyperammonemia during infancy and childhood as seen in our patient. This is the first case in terms of atypical clinical presentation with a new mutation for CTLN1.

Details

Title
Citrullinemia with an atypical presentation: Paroxysmal hypoventilation attacks
Author
Öztürk, Zeynep 1 ; Hirfanoğlu, Tuğba 2 ; İnci, Aslı 3 ; Okur, İlyas 3 ; Koç, Esin 4 ; Tümer, Leyla 3 ; Arhan, Ebru 2 ; Kürşad Aydın 2 ; Serdaroğlu, Ayşe 2 

 Department of Pediatric Neurology, Ankara Pediatric and Pediatric Hematology Oncology Training and Research Hospital, Gazi University School of Medicine, Ankara 
 Department of Pediatric Neurology, Gazi University School of Medicine, Ankara 
 Department of Metabolism, Gazi University School of Medicine, Ankara 
 Department of Neonatology, Gazi University School of Medicine, Ankara 
Pages
276-278
Publication year
2018
Publication date
Apr/Jun 2018
Publisher
Medknow Publications & Media Pvt. Ltd.
ISSN
18171745
e-ISSN
19983948
Source type
Scholarly Journal
Language of publication
English
ProQuest document ID
2131583455
Copyright
© 2018. This work is published under https://creativecommons.org/licenses/by-nc-sa/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.