ReviewOrphanet journal of rare diseases2015
Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes.
Review in Orphanet journal of rare diseases, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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Who cites it
29 citing papers in PubMed, 46 citations in OpenAlex.
- Carrier screening in the reproductive setting-Are there medical implications for the heterozygote?-A guide for clinicians.Pregnancy (Hoboken, N.J.) · 2026Review
- A Systematic Bioinformatic Analysis of the miRNA Pathway in Inborn Errors of Amino Acid Metabolism Disorders.Molecular syndromology · 2026Article
- Exploratory Urinary Proteomic Profiling in Pregnancies with Fetal Aneuploidies: Molecular Insights into Maternal-Fetal Metabolic Communication.Current issues in molecular biology · 2025Article
- Hypermethioninemia due to methionine adenosyltransferase I/III deficiency and brain damage.BMC pediatrics · 2024Article
- Sulfur starvation-induced autophagy in Saccharomyces cerevisiae involves SAM-dependent signaling and transcription activator Met4.Nature communications · 2024Article
- Cystathionine Beta-Synthase Deficiency: Three Consecutive Cases Detected in 40 Days by Newborn Screening in Emilia Romagna (Italy) and a Comprehensive Review of the Literature.Children (Basel, Switzerland) · 2023Article
- A pathogenic variant in theFrontiers in neuroscience · 2023Article
- Article
- Long-term prognosis of 35 patients with methionine adenosyltransferase deficiency based on newborn screening in China.Frontiers in cell and developmental biology · 2022Article
- Polar Interactions at the Dimer-Dimer Interface of Methionine Adenosyltransferase MAT I Control Tetramerization.International journal of molecular sciences · 2021Article
- Ethical and Psychosocial Implications of Genomic Newborn Screening.International journal of neonatal screening · 2021Article
- When to measure plasma homocysteine and how to place it in context: The homocystinurias.Journal of mother and child · 2020Review
- Withdrawal Effects Following Methionine Exposure in Adult Zebrafish.Molecular neurobiology · 2020Article
- Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence.JIMD reports · 2020Article
- Mild Persistent Isolated Hypermethioninemia Identified through Newborn Screening in Michigan.Journal of pediatric genetics · 2019Article
- Article
- 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
- Reversible Cerebral White Matter Abnormalities in Homocystinuria.JIMD reports · 2019Article
- A New Integrated Newborn Screening Workflow Can Provide a Shortcut to Differential Diagnosis and Confirmation of Inherited Metabolic Diseases.Yonsei medical journal · 2018Article
- Methionine adenosyltransferase I/III deficiency: beyond the central nervous system manifestations.Therapeutics and clinical risk management · 2018Article
Corrections and comments
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Authors and funding
39 authors at 20 institutions in 13 countries.
Funding
Abstract
backgroundThis paper summarizes the results of a group effort to bring together the worldwide available data on patients who are either homozygotes or compound heterozygotes for mutations in MAT1A. MAT1A encodes the subunit that forms two methionine adenosyltransferase isoenzymes, tetrameric MAT I and dimeric MAT III, that catalyze the conversion of methionine and ATP to S-adenosylmethionine (AdoMet). Subnormal MAT I/III activity leads to hypermethioninemia. Individuals, with hypermethioninemia due to one of the MAT1A mutations that in heterozygotes cause relatively mild and clinically benign hypermethioninemia are currently often being flagged in screening programs measuring methionine elevation to identify newborns with defective cystathionine β-synthase activity. Homozygotes or compound heterozygotes for MAT1A mutations are less frequent. Some but not all, such individuals have manifested demyelination or other CNS abnormalities. PURPOSE OF THE STUDY: The goals of the present effort have been to determine the frequency of such abnormalities, to find how best to predict whether they will occur, and to evaluate the outcomes of the variety of treatment regimens that have been used. Data have been gathered for 64 patients, of whom 32 have some evidence of CNS abnormalities (based mainly on MRI findings), and 32 do not have such evidence. RESULTS AND DISCUSSION: The results show that mean plasma methionine concentrations provide the best indication of the group into which a given patient will fall: those with means of 800 μM or higher usually have evidence of CNS abnormalities, whereas those with lower means usually do not. Data are reported for individual patients for MAT1A genotypes, plasma methionine, total homocysteine (tHcy), and AdoMet concentrations, liver function studies, results of 15 pregnancies, and the outcomes of dietary methionine restriction and/or AdoMet supplementation. Possible pathophysiological mechanisms that might contribute to CNS damage are discussed, and tentative suggestions are put forth as to optimal management.
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