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 MAT1A gene. It is the most common cause of hypermethioninemia in newborn screening. Heterozygotes are often asymptomatic. In contrast, homozygous or compound heterozygous individuals can develop...

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Detalles Bibliográficos
Autores principales: Hübner, Vanessa, Hannibal, Luciana, Janzen, Nils, Grünert, Sarah Catharina, Freisinger, Peter
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9323693/
https://www.ncbi.nlm.nih.gov/pubmed/35885946
http://dx.doi.org/10.3390/genes13071163

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9323693/
https://www.ncbi.nlm.nih.gov/pubmed/35885946
http://dx.doi.org/10.3390/genes13071163

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