Article
Analysis of five cases of hypermethioninemia diagnosed by neonatal screening.
Journal of pediatric endocrinology & metabolism : JPEM - 28 Jan 2020
Zhang Zhilei, Wang Yanyun, Ma Dingyuan, Cheng Wei, Sun Yun, Jiang Tao
Abstract excerpt
Background Hypermethioninemia is a group of diseases with elevated plasma methionine (Met) caused by hereditary and non-hereditary factors, although it could also be caused by administration of the amino acid Met. Among these, the disease caused by methionine adenosyltransferase (MAT) I/III deficiency is the most common, and is characterized by persistent, isolated hypermethioninemia as well as slightly elevated...
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