대한유전성대사질환학회지 (Journal of The Korean Society of Inherited Metabolic disease)

대한유전성대사질환학회 (The Korea Society of Inherited Metabolic Disease)
권호 표지

고시트룰린혈증의 신생아 선별검사 후 진단 알고리즘

A Diagnostic Algorithm of Newborn Screening for Elevated Citrulline

  • 홍용희 (순천향대학교 부천병원 소아청소년과) ;
  • 고정민 (서울대학교 어린이병원 소아청소년과) ;
  • 이경아 (연세대학교 강남세브란스병원 진단검사의학과)
  • Hong, Yong Hee (Department of Pediatrics, Soonchunhyang University Hospital) ;
  • Ko, Jung Min (Department of Pediatrics, Seoul National University Children's Hospital) ;
  • Lee, Kyung-A (Department of Laboratory Medicine, Yonsei University College of Medicine)
  • 발행 : 2016.08.31
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초록

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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참고문헌

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