Literature DB >> 16435220

Methionine adenosyltransferase (MAT) I/III deficiency with concurrent hyperhomocysteinaemia: two novel cases.

M Linnebank1, F Lagler, A C Muntau, W Röschinger, B Olgemöller, B Fowler, H G Koch.   

Abstract

This study reports three novel mutations of the methionine adenosyltransferase (MAT) lA gene and confirms that hyperhomocysteinaemia may be a characteristic finding in MAT I/III deficiency. Thus, MAT I/III deficiency is important in the differential diagnoses of hyperhomocysteinaemia, which may lead to clinical complications of MAT I/III deficiency.

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Year:  2005        PMID： 16435220     DOI： 10.1007/s10545-005-4497-5

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  3 in total

Review 1.  Molecular genetics of hepatic methionine adenosyltransferase deficiency.

Authors:  J Y Chou
Journal:  Pharmacol Ther       Date:  2000-01       Impact factor: 12.310

2.  Elevated plasma total homocysteine in severe methionine adenosyltransferase I/III deficiency.

Authors:  Sally P Stabler; Clemens Steegborn; Markus C Wahl; Jana Oliveriusova; Jan P Kraus; Robert H Allen; Conrad Wagner; S Harvey Mudd
Journal:  Metabolism       Date:  2002-08       Impact factor: 8.694

3.  Molecular mechanisms of an inborn error of methionine pathway. Methionine adenosyltransferase deficiency.

Authors:  T Ubagai; K J Lei; S Huang; S H Mudd; H L Levy; J Y Chou
Journal:  J Clin Invest       Date:  1995-10       Impact factor: 14.808
  3 in total
  9 in total

1.  Methionine Adenosyltransferase I/III Deficiency in Portugal: High Frequency of a Dominantly Inherited Form in a Small Area of Douro High Lands.

Authors:  E Martins; A Marcão; A Bandeira; H Fonseca; C Nogueira; L Vilarinho
Journal:  JIMD Rep       Date:  2012-02-01

2.  Determination of Autosomal Dominant or Recessive Methionine Adenosyltransferase I/III Deficiencies Based on Clinical and Molecular Studies.

Authors:  Yoo-Mi Kim; Ja Hye Kim; Jin Choi; Kim Gu-Hwan; Jae-Min Kim; Minji Kang; In-Hee Choi; Chong Kun Cheon; Young Bae Sohn; Marco Maccarana; Han-Wook Yoo; Beom Hee Lee
Journal:  Mol Med       Date:  2016-02-18       Impact factor: 6.354

3.  Hypermethioninaemia due to methionine adenosyltransferase I/III (MAT I/III) deficiency: diagnosis in an expanded neonatal screening programme.

Authors:  M L Couce; M D Bóveda; D E Castiñeiras; F J Corrales; M I Mora; J M Fraga; S H Mudd
Journal:  J Inherit Metab Dis       Date:  2008-05-20       Impact factor: 4.982

Review 4.  Inherited disorders in the conversion of methionine to homocysteine.

Authors:  Ivo Barić
Journal:  J Inherit Metab Dis       Date:  2009-07-07       Impact factor: 4.982

5.  Methionine adenosyltransferase I/III deficiency: beyond the central nervous system manifestations.

Authors:  Marwan Nashabat; Sultan Al-Khenaizan; Majid Alfadhel
Journal:  Ther Clin Risk Manag       Date:  2018-02-02       Impact factor: 2.423

6.  Hypermethioninemia in Campania: Results from 10 years of newborn screening.

Authors:  Guglielmo R D Villani; Lucia Albano; Marianna Caterino; Daniela Crisci; Silvia Di Tommaso; Simona Fecarotta; Maria Grazia Fisco; Giulia Frisso; Giovanna Gallo; Cristina Mazzaccara; Emanuela Marchese; Antonio Nolano; Giancarlo Parenti; Rita Pecce; Adriana Redi; Francesco Salvatore; Pietro Strisciuglio; Maria Grazia Turturo; Fabiana Vallone; Margherita Ruoppolo
Journal:  Mol Genet Metab Rep       Date:  2019-10-11

7.  Structural basis of the dominant inheritance of hypermethioninemia associated with the Arg264His mutation in the MAT1A gene.

Authors:  Jiraporn Panmanee; Svetlana V Antonyuk; S Samar Hasnain
Journal:  Acta Crystallogr D Struct Biol       Date:  2020-05-29       Impact factor: 7.652

8.  Insight into S-adenosylmethionine biosynthesis from the crystal structures of the human methionine adenosyltransferase catalytic and regulatory subunits.

Authors:  Naeem Shafqat; Joao R C Muniz; Ewa S Pilka; Evangelos Papagrigoriou; Frank von Delft; Udo Oppermann; Wyatt W Yue
Journal:  Biochem J       Date:  2013-05-15       Impact factor: 3.857

Review 9.  Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes.

Authors:  Yin-Hsiu Chien; Jose E Abdenur; Federico Baronio; Allison Anne Bannick; Fernando Corrales; Maria Couce; Markus G Donner; Can Ficicioglu; Cynthia Freehauf; Deborah Frithiof; Garrett Gotway; Koichi Hirabayashi; Floris Hofstede; George Hoganson; Wuh-Liang Hwu; Philip James; Sook Kim; Stanley H Korman; Robin Lachmann; Harvey Levy; Martin Lindner; Lilia Lykopoulou; Ertan Mayatepek; Ania Muntau; Yoshiyuki Okano; Kimiyo Raymond; Estela Rubio-Gozalbo; Sabine Scholl-Bürgi; Andreas Schulze; Rani Singh; Sally Stabler; Mary Stuy; Janet Thomas; Conrad Wagner; William G Wilson; Saskia Wortmann; Shigenori Yamamoto; Maryland Pao; Henk J Blom
Journal:  Orphanet J Rare Dis       Date:  2015-08-20       Impact factor: 4.123
  9 in total

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