| Methionine adenosyltransferase deficiency: new enzymatic defect associated with hypermethioninemia. | |
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MedLine Citation:
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PMID: 4421454 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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A specific deficiency of methionine adenosyltransferase has been demonstrated in the liver of an infant with hypermethioninemia. Since the enzymatic activity was below that in fetal liver and the metabolic abnormality has persisted (the infant now being 1 year of age), there is probably a genetic mutation. Mass screening for hypermethioninemia may uncover more such cases. |
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Authors:
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G E Gaull; H H Tallan |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Science (New York, N.Y.) Volume: 186 ISSN: 0036-8075 ISO Abbreviation: Science Publication Date: 1974 Oct |
Date Detail:
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Created Date: 1974-12-28 Completed Date: 1974-12-28 Revised Date: 2007-08-17 |
Medline Journal Info:
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Nlm Unique ID: 0404511 Medline TA: Science Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 59-60 Citation Subset: IM |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Amino Acid Metabolism, Inborn Errors
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blood,
diagnosis,
enzymology*,
genetics Humans Hydro-Lyases / metabolism Infant, Newborn Liver / embryology, enzymology* Lyases / metabolism Mass Screening Methionine / blood*, metabolism Methyltransferases / metabolism Mutation Transferases / deficiency* |
| Chemical | |
Reg. No./Substance:
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63-68-3/Methionine; EC 2.-/Transferases; EC 2.1.1.-/Methyltransferases; EC 4.-/Lyases; EC 4.2.1.-/Hydro-Lyases |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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