Methionine Adenosyltransferase I/III Deficiency Detected by Newborn Screening

Methionine Adenosyltransferase I/III Deficiency Detected by Newborn Screening

Methionine adenosyltransferase I/III deficiency is an inborn error of metabolism due to mutations in the <i>MAT1A</i> gene. It is the most common cause of hypermethioninemia in newborn screening. Heterozygotes are often asymptomatic. In contrast, homozygous or compound heterozygous indiv...

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Bibliographic Details
Main Authors: Vanessa Hübner, Luciana Hannibal, Nils Janzen, Sarah Catharina Grünert, Peter Freisinger
Format: Article
Language:English
Published: MDPI AG 2022-06-01
Series:Genes
Subjects:
MAT1A
hypermethioninemia
methionine adenosyltransferase
newborn screening
CNS symptoms
Online Access:https://www.mdpi.com/2073-4425/13/7/1163

Internet

https://www.mdpi.com/2073-4425/13/7/1163

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