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KMID : 0365419990180010107
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Journal of the KLIMA
1999 Volume.18 No. 1 p.107 ~ p.110
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Epidemiological Survey in Mass Screening for Inborn Errors of Metabolism
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Lee Jae-Sung
Choi Cheol-Seok
Choi Kyu-Soon
Lee Mu-Ju
Doo Hwa-Sun
Kang Sang-Hoon
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Abstract
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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;l), 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;l, 8mg/dl;l), 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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