ArticleJIMD reports2014
Thirteen Patients with MAT1A Mutations Detected Through Newborn Screening: 13 Years' Experience.
Article in JIMD reports, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 19 citations in OpenAlex.
- Hypermethioninemia due to methionine adenosyltransferase I/III deficiency and brain damage.BMC pediatrics · 2024Article
- A Review of Disparities and Unmet Newborn Screening Needs over 33 Years in a Cohort of Mexican Patients with Inborn Errors of Intermediary Metabolism.International journal of neonatal screening · 2023Article
- Polar Interactions at the Dimer-Dimer Interface of Methionine Adenosyltransferase MAT I Control Tetramerization.International journal of molecular sciences · 2021Article
- Analysis of 2-methylcitric acid, methylmalonic acid, and total homocysteine in dried blood spots by LC-MS/MS for application in the newborn screening laboratory: A dual derivatization approach.Journal of mass spectrometry and advances in the clinical lab · 2021Article
- Structural basis of the dominant inheritance of hypermethioninemia associated with the Arg264His mutation in the MAT1A gene.Acta crystallographica. Section D, Structural biology · 2020Article
- Hyperhomocysteinemia: Clinical Insights.Journal of central nervous system disease · 2020Review
- Hypermethioninemia in Campania: Results from 10 years of newborn screening.Molecular genetics and metabolism reports · 2019Article
- Mild Persistent Isolated Hypermethioninemia Identified through Newborn Screening in Michigan.Journal of pediatric genetics · 2019Article
- Confirmation thatMolecular genetics and metabolism reports · 2017Article
- [Screening for amino acid metabolic disorders of newborns in Zhejiang province:prevalence, outcome and follow-up].Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences · 2017Article
- Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders.Journal of inherited metabolic disease · 2017Review
- Determination of Autosomal Dominant or Recessive Methionine Adenosyltransferase I/III Deficiencies Based on Clinical and Molecular Studies.Molecular medicine (Cambridge, Mass.) · 2016Article
- Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes.Orphanet journal of rare diseases · 2015Review
- Newborn Screening for Homocystinuria Revealed a High Frequency of MAT I/III Deficiency in Iberian Peninsula.JIMD reports · 2015Article
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMethionine adenosyltransferase I/III (MATI/III) deficiency is the most common genetic cause of persistent isolated hypermethioninemia. Patients and Methods : This is a retrospective data analysis of 62 newborns with elevated methionine detected by newborn screening between January 2000 and June 2013. The clinical, biochemical, and molecular findings of a subset of these children with MAT1A mutations associated with MATI/III deficiency are presented.
resultsOf the 62 newborns with elevated methionine, 12 were identified as having classical homocystinuria; 37 were false-positives; and 13 were found to have isolated persistent hypermethioninemia in the absence of biochemical markers of homocystinuria, abnormal liver function studies, or other causes of elevated methionine. These 13 individuals underwent genetic testing for changes in the MAT1A gene, associated with MATI/III deficiency. Three of 13 were found to have the common autosomal dominant R264H mutation, one was found to be a compound heterozygote for two novel pathogenic mutations, and three were found to be heterozygotes for previously reported mutations shown to cause autosomal recessive MATI/III deficiency when present in homozygous or a compound heterozygous configuration. The remaining six patients had variants of unknown clinical significance or novel mutations. For the majority of individuals, methionine persisted above the normal range but trended downward over time. None of these 13 individuals was started on a low-methionine diet, and all have age-appropriate growth and development.
conclusionThese cases show that individuals with even single changes in the MAT1A gene may have elevations in methionine identified by newborn screening, which may persist for months after birth without any clinical consequences.
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