ArticleJIMD reports2012
Methionine Adenosyltransferase I/III Deficiency in Portugal: High Frequency of a Dominantly Inherited Form in a Small Area of Douro High Lands.
Article in JIMD reports, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.
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Who cites it
17 citing papers in PubMed, 1 synthesis or guideline pooled it, 31 citations in OpenAlex.
- Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines.Journal of inherited metabolic disease · 2015Pooled it
- Portuguese Neonatal Screening Program: A Cohort Study of 18 Years Using MS/MS.International journal of neonatal screening · 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
- The new mechanism of cognitive decline induced by hypertension: High homocysteine-mediated aberrant DNA methylation.Frontiers in cardiovascular medicine · 2022Review
- Structural basis of the dominant inheritance of hypermethioninemia associated with the Arg264His mutation in the MAT1A gene.Acta crystallographica. Section D, Structural biology · 2020Article
- Hypermethioninemia in Campania: Results from 10 years of newborn screening.Molecular genetics and metabolism reports · 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
- 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
- MRI and (1)H-MRS in adenosine kinase deficiency.Neuroradiology · 2016Article
- Methionine Exposure Alters Glutamate Uptake and Adenine Nucleotide Hydrolysis in the Zebrafish Brain.Molecular neurobiology · 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
- Thirteen Patients with MAT1A Mutations Detected Through Newborn Screening: 13 Years' Experience.JIMD reports · 2014Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Methionine adenosyltransferase deficiency (MAT I/III deficiency) is an inborn error of metabolism resulting in isolated hypermethioninemia, and usually inherited as an autosomal recessive trait, although a dominant form has been reported in several families.During the last 6 years, approximately 520,000 newborns were screened in the Portuguese Newborn Screening Laboratory by MS/MS, and 21 cases of persistent hypermethioninemia were found. One case was confirmed to be a deficiency of cystathionine β-synthase and 20 cases were confirmed by MAT1A gene analysis to have an elevation of methionine due to MAT I/III deficiency, which indicates an incidence for this condition of 1/26,000. Twelve of the MAT I/III deficient newborns, belonging to 11 families, were identified in the northern region of Portugal and sent to the same treatment center, where they are under follow-up. Clinical, biochemical, and genetic characteristics of individuals from these 11 families are presented. Plasma methionine and homocysteine concentrations were found to be moderately increased in all newborns, and molecular analysis revealed that they all were heterozygous for R264H mutation. Normal growth, development, and neurological examination were observed in all cases, and cerebral MRI performed in six cases revealed myelination abnormalities in one case. Plasma methionine concentration for all 12 cases was always below 300 μM, and they are all on a normal diet for their age.
Identifiers
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.