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http://dx.doi.org/10.3345/kjp.2010.53.3.329

Spectrum of patients with hypermethioninemia based on neonatal screening tests over 14 years  

Oh, Se Jung (Department of Pediatrics, College of Medicine, Soonchunhyang University)
Hong, Yong Hee (Department of Pediatrics, College of Medicine, Soonchunhyang University)
Lee, Yong Wha (Department of Laboratory Medicine & Genetics, Soonchunhyang University Bucheon Hospital and Soonchunhyang University College of Medicine)
Lee, Dong Hwan (Department of Pediatrics, College of Medicine, Soonchunhyang University)
Publication Information
Clinical and Experimental Pediatrics / v.53, no.3, 2010 , pp. 329-334 More about this Journal
Abstract
Purpose : 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. Methods : 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.Results : 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 $50.0{\pm}22.5$ days and $34.9{\pm}13.5$ days, respectively. Both groups were put on diets, and they showed a normal developmental course as a result of early diagnosis and treatment. Conclusion : 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.
Keywords
Homocystinuria; Isolated hypermethioninemia; Neonatal screening test;
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Times Cited By KSCI : 1  (Citation Analysis)
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