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A female carrier of ornithine carbamoyltransferase deficiency masquerading as attention deficit-hyperactivity disorder

Authors
 Se Hee Kim  ;  Jin Sook Lee  ;  Byung Chan Lim  ;  Ki Joong Kim  ;  Yong Seoung Hwang  ;  June Dong Park  ;  Jung Eun Cheon  ;  In One Kim  ;  Boong Nyun Kim  ;  Jong Hee Chae 
Citation
 Brain & Development, Vol.36(8) : 734-737, 2014 
Journal Title
 Brain & Development 
ISSN
 0387-7604 
Issue Date
2014
Abstract
Many females who are heterozygous for ornithine carbamoyltransferase (OTC) deficiency are asymptomatic or intermittently symptomatic with great phenotypic variability. Therefore, the diagnosis of this condition is occasionally a challenge and is often delayed. A 12-year-old girl who was initially diagnosed as having attention deficit-hyperactivity disorder (ADHD) became comatose and developed right-sided hemiparesis during her psychiatric admission. Brain magnetic resonance imaging indicated diffuse but extensive swelling in the left hemisphere with multiple lesions suggestive of an old infarction. Repeated evaluations revealed hyperammonemia and orotic aciduria, and she was diagnosed as having an OTC deficiency. Genetic analysis revealed a heterozygous mutation of N47I in the X-linked OTC gene. Her mental status and hemiparesis improved after hyperammonemia treatment. Here, we report a rare case of a manifestating female carrier with severe symptoms of OTC deficiency masquerading as ADHD.
Full Text
http://www.sciencedirect.com/science/article/pii/S038776041300291X
DOI
10.1016/j.braindev.2013.09.009
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아청소년과학교실) > 1. Journal Papers
Yonsei Authors
Kim, Se Hee(김세희) ORCID logo https://orcid.org/0000-0001-7773-1942
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URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/139078
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