Literature DB >> 4421454

Methionine adenosyltransferase deficiency: new enzymatic defect associated with hypermethioninemia.

G E Gaull, H H Tallan.   

Abstract

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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Year:  1974        PMID： 4421454     DOI： 10.1126/science.186.4158.59

Source DB:  PubMed          Journal:  Science        ISSN： 0036-8075            Impact factor:   47.728


  17 in total

Review 1.  Biochemistry and pharmacology of S-adenosyl-L-methionine and rationale for its use in liver disease.

Authors:  R K Chawla; H L Bonkovsky; J T Galambos
Journal:  Drugs       Date:  1990       Impact factor: 9.546

2.  Demyelination of the brain is associated with methionine adenosyltransferase I/III deficiency.

Authors:  M E Chamberlin; T Ubagai; S H Mudd; W G Wilson; J V Leonard; J Y Chou
Journal:  J Clin Invest       Date:  1996-08-15       Impact factor: 14.808

3.  Intermittent hypermethioninaemia associated with normal hepatic methionine adenosyltransferase activity: report of a case.

Authors:  B M Jhaveri; N R Buist; G E Gaull; H H Tallan
Journal:  J Inherit Metab Dis       Date:  1982       Impact factor: 4.982

4.  Adenosine kinase deficiency disrupts the methionine cycle and causes hypermethioninemia, encephalopathy, and abnormal liver function.

Authors:  Magnus K Bjursell; Henk J Blom; Jordi Asin Cayuela; Martin L Engvall; Nicole Lesko; Shanti Balasubramaniam; Göran Brandberg; Maria Halldin; Maria Falkenberg; Cornelis Jakobs; Desiree Smith; Eduard Struys; Ulrika von Döbeln; Claes M Gustafsson; Joakim Lundeberg; Anna Wedell
Journal:  Am J Hum Genet       Date:  2011-09-28       Impact factor: 11.025

5.  Crystallography captures catalytic steps in human methionine adenosyltransferase enzymes.

Authors:  Ben Murray; Svetlana V Antonyuk; Alberto Marina; Shelly C Lu; Jose M Mato; S Samar Hasnain; Adriana L Rojas
Journal:  Proc Natl Acad Sci U S A       Date:  2016-02-08       Impact factor: 11.205

6.  Maternal methionine adenosyltransferase I/III deficiency: reproductive outcomes in a woman with four pregnancies.

Authors:  S H Mudd; A Tangerman; S P Stabler; R H Allen; C Wagner; S H Zeisel; H L Levy
Journal:  J Inherit Metab Dis       Date:  2003       Impact factor: 4.982

Review 7.  The role of genetics in the establishment and maintenance of the epigenome.

Authors:  Covadonga Huidobro; Agustin F Fernandez; Mario F Fraga
Journal:  Cell Mol Life Sci       Date:  2013-03-10       Impact factor: 9.261

8.  Impaired metabolism of methionine in severe liver diseases. I. Clinical and pathophysiological significance of elevated serum methionine levels.

Authors:  T Higashi
Journal:  Gastroenterol Jpn       Date:  1982-04

9.  Hepatic methionine adenosyltransferase deficiency in a 31-year-old man.

Authors:  W A Gahl; J D Finkelstein; K D Mullen; I Bernardini; J J Martin; P Backlund; K G Ishak; J H Hoofnagle; S H Mudd
Journal:  Am J Hum Genet       Date:  1987-01       Impact factor: 11.025

10.  Isolated persistent hypermethioninemia.

Authors:  S H Mudd; H L Levy; A Tangerman; C Boujet; N Buist; A Davidson-Mundt; L Hudgins; K Oyanagi; M Nagao; W G Wilson
Journal:  Am J Hum Genet       Date:  1995-10       Impact factor: 11.025
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