ArticleJournal of inherited metabolic disease2008
Hypermethioninaemia due to methionine adenosyltransferase I/III (MAT I/III) deficiency: diagnosis in an expanded neonatal screening programme.
Article in Journal of inherited metabolic disease, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 32 citations in OpenAlex.
- Hypermethioninemia due to methionine adenosyltransferase I/III deficiency and brain damage.BMC pediatrics · 2024Article
- Article
- Long-term prognosis of 35 patients with methionine adenosyltransferase deficiency based on newborn screening in China.Frontiers in cell and developmental biology · 2022Article
- Structural basis of the dominant inheritance of hypermethioninemia associated with the Arg264His mutation in the MAT1A gene.Acta crystallographica. Section D, Structural biology · 2020Article
- Mild Persistent Isolated Hypermethioninemia Identified through Newborn Screening in Michigan.Journal of pediatric genetics · 2019Article
- Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population.Frontiers in genetics · 2019Article
- Methionine adenosyltransferase I/III deficiency: beyond the central nervous system manifestations.Therapeutics and clinical risk management · 2018Article
- Confirmation thatMolecular genetics and metabolism reports · 2017Article
- [Gene mutations in a newborn infant with hypermethioninemia].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2017Article
- Determination of Autosomal Dominant or Recessive Methionine Adenosyltransferase I/III Deficiencies Based on Clinical and Molecular Studies.Molecular medicine (Cambridge, Mass.) · 2016Article
- Methionine Exposure Alters Glutamate Uptake and Adenine Nucleotide Hydrolysis in the Zebrafish Brain.Molecular neurobiology · 2016Article
- Newborn Screening for Homocystinuria Revealed a High Frequency of MAT I/III Deficiency in Iberian Peninsula.JIMD reports · 2015Article
- Thirteen Patients with MAT1A Mutations Detected Through Newborn Screening: 13 Years' Experience.JIMD reports · 2014Article
- The role of genetics in the establishment and maintenance of the epigenome.Cellular and molecular life sciences : CMLS · 2013Review
- Methionine Adenosyltransferase I/III Deficiency in Portugal: High Frequency of a Dominantly Inherited Form in a Small Area of Douro High Lands.JIMD reports · 2012Article
- The biochemical and toxicological significance of hypermethionemia: new insights and clinical relevance.Expert opinion on drug metabolism & toxicology · 2010Review
- Inherited disorders in the conversion of methionine to homocysteine.Journal of inherited metabolic disease · 2009Review
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Authors and funding
7 authors at 3 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The Expanded Newborn Screening Program (MS/MS) in the region of Galicia (NW Spain) was initiated in 2000 and includes the measurement of methionine levels in dried blood spots. Between June 2000 and June 2007, 140 818 newborns were analysed, and six cases of persistent hypermethioninaemia were detected: one homocystinuria due to cystathionine β-synthase (CβS) deficiency, and five methionine adenosyltransferase I/III (MAT I/III) deficiencies. The five cases of MAT I/III deficiency represent an incidence of 1/28 163 newborns. In these five patients, methionine levels in dried blood spots ranged from 50 to 147 μmol/L. At confirmation of the persistence of the hypermethioninaemia in a subsequent plasma sample, plasma methionine concentrations were moderately elevated in 4 of the 5 patients (mean 256 μmol/L), while total homocysteine (tHcy) was normal; the remaining patient showed plasma methionine of 573 μmol/L and tHcy of 22.8 μmol/L. All five patients were heterozygous for the same dominant mutation, R264H in the MAT1A gene. With a diet not exceeding recommended protein requirements for their age, all patients maintained methionine levels below 300 μmol/L. Currently, with a mean of 2.5 years since diagnosis, the patients are asymptomatic and show developmental quotients within the normal range. Our results show a rather high frequency of hypermethioninaemia due to MAT I/III deficiency in the Galician neonatal population, indicating a need for further studies to evaluate the impact of persistent isolated hypermethioninaemia in neonatal screening programmes.
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