Document Detail


Methionine adenosyltransferase deficiency: new enzymatic defect associated with hypermethioninemia.
MedLine Citation:
PMID:  4421454     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
G E Gaull; H H Tallan
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Science (New York, N.Y.)     Volume:  186     ISSN:  0036-8075     ISO Abbreviation:  Science     Publication Date:  1974 Oct 
Date Detail:
Created Date:  1974-12-28     Completed Date:  1974-12-28     Revised Date:  2007-08-17    
Medline Journal Info:
Nlm Unique ID:  0404511     Medline TA:  Science     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  59-60     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Amino Acid Metabolism, Inborn Errors / 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:
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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