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

The Korea Society of Inherited Metabolic Disease (대한유전성대사질환학회)
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Galactosemia: A Korean Patient and Literature Review

갈락토스 혈증: 한국인 갈락토스 환자 증례보고와 문헌 고찰

  • Yu, Seung Woo (Department of Pediatrics, Chungnam National University Hospital, College of Medicine, Chungnam National University) ;
  • Gang, Mi Hyeon (Department of Pediatrics, Chungnam National University Hospital, College of Medicine, Chungnam National University) ;
  • Lee, Yong Wook (Department of Pediatrics, Chungnam National University Hospital, College of Medicine, Chungnam National University) ;
  • Chang, Mea Young (Department of Pediatrics, Chungnam National University Hospital, College of Medicine, Chungnam National University) ;
  • Levy, Harvey L. (Division of Genetics and Genomics, Children's Hospital, Harvard Medical School) ;
  • Kim, Sook Za (Department of Pediatrics, Chungnam National University Hospital, College of Medicine, Chungnam National University)
  • 유승우 (충남대학교 의과대학 부속병원 소아청소년과) ;
  • 강미현 (충남대학교 의과대학 부속병원 소아청소년과) ;
  • 이용욱 (충남대학교 의과대학 부속병원 소아청소년과) ;
  • 장미영 (충남대학교 의과대학 부속병원 소아청소년과) ;
  • ;
  • 김숙자 (충남대학교 의과대학 부속병원 소아청소년과)
  • Published : 2020.06.30
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Abstract

Classic galactosemia is a rare genetic disorder in Korea and the mutation spectrum in Koreans differs from that of Caucasians and non-Caucasian Americans. Classic galactosemia is considered a metabolic complication that is preventable by early detection via newborn screening and dietary treatment. In this most recent case of Korean galactosemia, the patient showed early initiation of clinical symptoms, which manifested during the neonatal period. The patient achieved normalization via diet management to correct metabolic complications. In addition, we assessed the characteristics of mutations in 25 Korean galactosemia cases via a literature review of studies associated with classic galactosemia.

고전적 갈락토스 혈증은 한국에서 드물게 발생하는 유전 대사 질환이다. 또한 한국인의 돌연변이 스펙트럼은 코카시안과 비코카시안의 돌연변이 스펙트럼이 다르다. 한국에서 고전적 갈락토스 혈증은 임상적으로 서방국가와 유사하지만 분자적 연구에 따르면 백인, 아프리카인, 미국인, 일본인 및 한국인에게 고유한 돌연변이가 나타났다. 고전적인 갈락토스 혈증은 신생아 스크리닝 검사로 조기 발견하여 식이요법을 할 경우 대사질환으로 인한 합병증이 예방될 수 있다고 생각되어 왔다. 한국의 고전적 갈락토스 혈증의 가장 최근의 사례에서 신생아 시기에 임상 증상이 시작되었다. 식이 치료를 통하여 합병증이 교정되어 정상화 되었다. 추가로 저자들은 25명의 고전적 갈락토스 혈증을 가진 돌연변이의 특징을 리뷰했다.

Keywords

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