Literature DB >> 2629632

Betaine for treatment of homocystinuria caused by methylenetetrahydrofolate reductase deficiency.

E Holme1, B Kjellman, E Ronge.   

Abstract

A 24 day old girl with homocystinuria and hypomethioninaemia caused by methylenetetrahydrofolate reductase deficiency presented with rapidly progressing encephalopathy and myopathy. An almost complete recovery was achieved by treatment with betaine.

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Year:  1989        PMID： 2629632      PMCID： PMC1792677          DOI： 10.1136/adc.64.7.1061

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN： 0003-9888            Impact factor:   3.791


  3 in total

1.  Homocystinuria associated with decreased methylenetetrahydrofolate reductase activity.

Authors:  S H Mudd; B W Uhlendorf; J M Freeman; J D Finkelstein; V E Shih
Journal:  Biochem Biophys Res Commun       Date:  1972-01-31       Impact factor: 3.575

2.  Moderate homocysteinemia--a possible risk factor for arteriosclerotic cerebrovascular disease.

Authors:  L E Brattstrom; J E Hardebo; B L Hultberg
Journal:  Stroke       Date:  1984 Nov-Dec       Impact factor: 7.914

3.  Betaine in the treatment of homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency.

Authors:  U Wendel; H J Bremer
Journal:  Eur J Pediatr       Date:  1984-06       Impact factor: 3.183
  3 in total
  12 in total

1.  Long term treatment with betaine in methylenetetrahydrofolate reductase deficiency.

Authors:  E Ronge; B Kjellman
Journal:  Arch Dis Child       Date:  1996-03       Impact factor: 3.791

Review 2.  Hyperhomocysteinaemia; with reference to its neuroradiological aspects.

Authors:  M van den Berg; M S van der Knaap; G H Boers; C D Stehouwer; J A Rauwerda; J Valk
Journal:  Neuroradiology       Date:  1995-07       Impact factor: 2.804

Review 3.  Isolated remethylation disorders: do our treatments benefit patients?

Authors:  Manuel Schiff; Jean-François Benoist; Bogdana Tilea; Nicolas Royer; Stéphane Giraudier; Hélène Ogier de Baulny
Journal:  J Inherit Metab Dis       Date:  2010-05-21       Impact factor: 4.982

4.  Double-blind therapeutic trial in Angelman syndrome using betaine and folic acid.

Authors:  Sarika U Peters; Lynne M Bird; Virginia Kimonis; Daniel G Glaze; Lina M Shinawi; Terry Jo Bichell; Rene Barbieri-Welge; Mark Nespeca; Irina Anselm; Susan Waisbren; Erica Sanborn; Qin Sun; William E O'Brien; Arthur L Beaudet; Carlos A Bacino
Journal:  Am J Med Genet A       Date:  2010-08       Impact factor: 2.802

5.  An indirect response model of homocysteine suppression by betaine: optimising the dosage regimen of betaine in homocystinuria.

Authors:  Angela Matthews; Trevor N Johnson; Amin Rostami-Hodjegan; Anupam Chakrapani; J Edward Wraith; Stuart J Moat; James R Bonham; Geoffrey T Tucker
Journal:  Br J Clin Pharmacol       Date:  2002-08       Impact factor: 4.335

6.  Titration of betaine therapy to optimize therapy in an infant with 5,10-methylenetetrahydrofolate reductase deficiency.

Authors:  Sema Kalkan Ucar; Ozge Altun Koroğlu; Omer Berk; Mehmet Yalaz; Nilgün Kültürsay; Henk J Blom; Mahmut Coker
Journal:  Eur J Pediatr       Date:  2009-05-12       Impact factor: 3.183

7.  Effect of betaine on S-adenosylmethionine levels in the cerebrospinal fluid in a patient with methylenetetrahydrofolate reductase deficiency and peripheral neuropathy.

Authors:  T Kishi; I Kawamura; Y Harada; T Eguchi; N Sakura; K Ueda; K Narisawa; D S Rosenblatt
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

8.  Homocysteinemia and schizophrenia as a case of methylation deficiency.

Authors:  B Regland; B V Johansson; C G Gottfries
Journal:  J Neural Transm Gen Sect       Date:  1994

9.  Betaine rescue of an animal model with methylenetetrahydrofolate reductase deficiency.

Authors:  Bernd C Schwahn; Maurice D Laryea; Zhoutao Chen; Stepan Melnyk; Igor Pogribny; Timothy Garrow; S Jill James; Rima Rozen
Journal:  Biochem J       Date:  2004-09-15       Impact factor: 3.857

10.  Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency.

Authors:  Martina Huemer; Regina Mulder-Bleile; Patricie Burda; D Sean Froese; Terttu Suormala; Bruria Ben Zeev; Patrick F Chinnery; Carlo Dionisi-Vici; Dries Dobbelaere; Gülden Gökcay; Mübeccel Demirkol; Johannes Häberle; Alexander Lossos; Eugen Mengel; Andrew A Morris; Klary E Niezen-Koning; Barbara Plecko; Rossella Parini; Dariusz Rokicki; Manuel Schiff; Mareike Schimmel; Adrian C Sewell; Wolfgang Sperl; Ute Spiekerkoetter; Beat Steinmann; Grazia Taddeucci; Jose M Trejo-Gabriel-Galán; Friedrich Trefz; Megumi Tsuji; María Antònia Vilaseca; Jürgen-Christoph von Kleist-Retzow; Valerie Walker; Jiri Zeman; Matthias R Baumgartner; Brian Fowler
Journal:  J Inherit Metab Dis       Date:  2015-05-30       Impact factor: 4.982
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