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...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2022-06-01
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| Series: | Genes |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2073-4425/13/7/1163 |