Two Cases of Isolated Hypermethioninemia Found by Neonatal Mass Metabolic Screening Tests.
- Author:
Tae Youn CHOI
1
;
Won Bae KIM
;
Dong Hwan LEE
Author Information
1. Department of Clinical Pathology, College of Medicine, Soonchunhyang University, Seoul, Korea.
- Publication Type:Case Report
- Keywords:
Hypermethioninemia;
Neonatal mass screening;
Metabolic disorder
- MeSH:
Homocystinuria;
Humans;
Infant, Newborn;
Korea;
Liver;
Liver Function Tests;
Mass Screening*;
Methionine;
Neonatal Screening;
Transferases
- From:Korean Journal of Clinical Pathology
1998;18(4):546-549
- CountryRepublic of Korea
- Language:Korean
-
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.
