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고시트룰린혈증의 신생아 선별검사 후 진단 알고리즘

Other Titles
 A diagnostic algorithm of newborn screening for elevated citrulline 
Authors
 홍용희  ;  고정민  ;  이경아 
Citation
 Journal of the Korean Society of Inherited Metabolic Disease (대한유전성대사질환학회지), Vol.16(2) : 62-29, 2016 
Journal Title
 Journal of the Korean Society of Inherited Metabolic Disease  (대한유전성대사질환학회지) 
ISSN
 2234-8751 
Issue Date
2016
Keywords
Newborn screening ; Citrullinemia ; Citrin deficiency ; Argininosuccinic aciduria
Abstract
Newborn screening of some urea cycle disorders has little benefits because of early severe symptoms before the result, low sensitivity (especially hypocitrullinemia) and poor prognosis. But in case of citrullinemia, citrin deficiency and argininosuccinic aciduria diagnosed as elevated citrulline, newborn screening is helpful for early diagnosis and treatment before the symptom. Distinction between the clinical forms of these diseases is based on clinical findings and biochemical results, however, they may not be clearcut. Treatment is different from each other, so exact diagnosis is essential. Here, the diagnostic algorithm for elevated citrulline after tandem mass screening has been proposed. Minimizing total process time from sampling to report of the results is important in Korea for diagnosis and treatment of these disorders.
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Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers
Yonsei Authors
이경아(Lee, Kyung A) ORCID logo https://orcid.org/0000-0001-5320-6705
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URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/152279
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