Korean J Clin Pathol.
1998 Dec;18(4):546-549.
Two Cases of Isolated Hypermethioninemia Found by Neonatal Mass Metabolic Screening Tests
- Affiliations
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- 1Department of Clinical Pathology, College of Medicine, Soonchunhyang University, Seoul, Korea.
- 2Department of Pediatrics, College of Medicine, Soonchunhyang University, Seoul, Korea.
Abstract
- The neonatal screening test for homocystinuria has mostly measured methionine by use of dried blood specimen. Isolated hypermethioninemia, clinically benign metabolic disorder associated with the deficiency of methionine adenosyl transferase in liver, is discovered in neonatal mass screening tests for homocystinuria. We diagnosed two cases of isolated hypermethioninemia using the amino acid analysis and the liver function tests for newborns with increased methionine level in the Guthrie screening test for homocystinuria. For the first time in Korea, we report two cases of patients with isolated hypermethioninemia with a brief review of literatures.
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