한국의 신생아에서 선천성 대사이상 Screening에 관한 역학조사

Epidemiological Survey on Mass Screening for Inborn Errors of Metabolism

  • 이재상 (동암의학연구소, 서울의과학 연구소) ;
  • 최철석 (동암의학연구소, 서울의과학 연구소) ;
  • 최규순 (동암의학연구소, 서울의과학 연구소) ;
  • 이무주 (동암의학연구소, 서울의과학 연구소) ;
  • 두화선 (동암의학연구소, 서울의과학 연구소) ;
  • 강상훈 (동암의학연구소, 서울의과학 연구소)
  • Lee, Jae-Sang (Dongam Medical Institute and Seoul Medical Science Institute) ;
  • Choi, Cheol-Seok (Dongam Medical Institute and Seoul Medical Science Institute) ;
  • Choi, Kyu-Soon (Dongam Medical Institute and Seoul Medical Science Institute) ;
  • Lee, Mu-Ju (Dongam Medical Institute and Seoul Medical Science Institute) ;
  • Doo, Hwa-Sun (Dongam Medical Institute and Seoul Medical Science Institute) ;
  • Kang, Sang-Hoon (Dongam Medical Institute and Seoul Medical Science Institute)
  • 발행 : 1999.03.15

초록

The disorders of congenital metabolic errors causing mental retardation can be prevented by early diagnosis and treatment. We analysed 144,000 neonatal blood samples for phenyketonuria(PKU), maple syrup urine disease(MSUD), homocystinuria(HCU) and histidinuria(HE) by bacterial inhibition method, and galactosemia(GAL) by Paigen method. In our survey, the positive were 4 samples in PKU(4mg/dl;2, 6mg/dl;1, 8mg/dl;1), 8 samples in MSUD(4mg/dl;2, 6mg/dl;2, 8mg/dl;3, 10mg/dl;1), 4 samples in HCU(4mg/dl;2, 6mg/dl;2), 4 samples in Galactosemia(4mg/dl;2, 6mg/dl;1, 8mg/dl;1), respectively. while, no one was positive in HE. The frequncy rate were 1/36,000 for PKU, HCU and GAL, 1/18,000 for MSUD, respectively. But those for HE couldn't be detected in our survey. In this study, the hightest frequency rate was 1/18,000 of MSUD, following were 1/36,000 for PKU, HCU and GAL, respectively. As results our data, it is our opinion that neonatal screening should be performed in terms of national policies for ealy diagnosis and theraphy.

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