Korean Journal of Pediatrics 2010;53(3):329-334.
Published online March 15, 2010.
Spectrum of patients with hypermethioninemia based on neonatal screening tests over 14 years
Se Jung Oh1, Yong Hee Hong1, Yong Wha Lee2, Dong Hwan Lee1
1Department of Pediatrics, College of Medicine, Soonchunhyang University
2Department of Laboratory Medicine & Genetics, Soonchunhyang University Bucheon Hospital and Soonchunhyang University College of Medicine
14년간 신생아 선별검사에서 고메티오닌혈증으로 전원된 환아들의 임상적 고찰
오세정1, 홍용희1, 이용화2, 이동환1
1순천향대학교 의과대학 소아과학교실
2순천향대학교 부천병원 진단검사의학과
Dong Hwan Lee, Email: ldh@hosp.sch.ac.kr
Received: 4 January 2010   • Revised: 29 January 2010   • Accepted: 15 February 2010
: The neonatal screening test for homocystinuria primarily measures methionine by using a dried blood specimen. We investigated the incidence and clinical manifestations of homocystinuria, isolated hypermethioninemia, and transient hypermethioninemia among patients with hypermethioninemia on a neonatal screening test.
: We performed a retrospective study of 58 patients transferred to Shoonchunhyang Hospital because of hypermethioninemia on a neonatal screening test between January 1996 and August 2009. We analyzed the level of amino acid from plasma and urine, as well as blood homocysteine.
: Almost half of the 58 patients were identified as normal. Whereas only 3 (5.1%) patients were identified as having homocystinuria, about 20.7% (12 cases) of the patients had isolated hypermethioninemia. The ages of these two groups at initial detection of hypermethioninemia on plasma amino acid analysis were 50.0¡¾22.5 days and 34.9¡¾13.5 days, respectively. Both groups were put on diets, and they showed a normal developmental course as a result of early diagnosis and treatment.
: Hypermethioninemia without homocystinuria, referred to as isolated hypermethioninemia, was also detected. Thus, the impact of hypermethioninemia on a neonatal screening test should be carefully evaluated through analysis of amino acid levels from blood and urine, and we need to detect and treat an early stage of isolated hypermethioninemia as well as homocystinuria.
Key Words: Homocystinuria, Isolated hypermethioninemia, Neonatal screening test

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