Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 Betaine in the treatment of homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency.

Literature DB >> 6381059

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

Abstract

In a 3-year-old mentally retarded girl with homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency among different therapeutic approaches only treatment with betaine (15-20 g/day) resulted in a satisfactory biochemical response. Betaine improved homocysteine remethylation and thus lowered plasma homocystine to trace amounts and normalized the previously very low plasma methionine concentration. This biochemical response was associated with a clinical improvement although she remained mentally retarded.

Entities: Chemical Disease Gene Mutation Species

Mesh：

Substances：

Year: 1984 PMID： 6381059 DOI： 10.1007/bf00445602

Source DB: PubMed Journal: Eur J Pediatr ISSN： 0340-6199 Impact factor: 3.183

15 in total

1. HOMOCYSTINURIA: METABOLIC STUDIES ON 3 PATIENTS.

Authors: D P BRENTON; D C CUSWORTH; G E GAULL
Journal: J Pediatr Date: 1965-07 Impact factor: 4.406

2. Morphologic studies in a patient with homocystinuria due to 5, 10-methylenetetrahydrofolate reductase deficiency.

Authors: Y S Kanwar; J R Manaligod; P W Wong
Journal: Pediatr Res Date: 1976-06 Impact factor: 3.756

3. Methionine metabolism in mammals: kinetic study of betaine-homocysteine methyltransferase.

Authors: J D Finkelstein; B J Harris; W E Kyle
Journal: Arch Biochem Biophys Date: 1972-11 Impact factor: 4.013

4. A derangement in B12 metabolism associated with homocystinemia, cystathioninemia, hypomethioninemia and methylmalonic aciduria.

Authors: H L Levy; S H Mudd; J D Schulman; P M Dreyfus; R H Abeles
Journal: Am J Med Date: 1970-03 Impact factor: 4.965

5. Prenatal diagnosis for methylenetetrahydrofolate reductase deficiency.

Authors: U Wendel; U Claussen; E Diekmann
Journal: J Pediatr Date: 1983-06 Impact factor: 4.406

6. The use of betaine for the treatment of homocystinuria.

Authors: L A Smolin; N J Benevenga; S Berlow
Journal: J Pediatr Date: 1981-09 Impact factor: 4.406

7. Sulfur-containing amino acids in the plasma and urine of homocystinurics.

Authors: T L Perry; S Hansen; L MacDougall; P D Warrington
Journal: Clin Chim Acta Date: 1967-03 Impact factor: 3.786

8. Folate-responsive homocystinuria and "schizophrenia". A defect in methylation due to deficient 5,10-methylenetetrahydrofolate reductase activity.

Authors: J M Freeman; J D Finkelstein; S H Mudd
Journal: N Engl J Med Date: 1975-03-06 Impact factor: 91.245

9. Homocystinuria--the effects of betaine in the treatment of patients not responsive to pyridoxine.

Authors: D E Wilcken; B Wilcken; N P Dudman; P A Tyrrell
Journal: N Engl J Med Date: 1983-08-25 Impact factor: 91.245

10. Folate distribution in cultured human cells. Studies on 5,10-CH2-H4PteGlu reductase deficiency.

Authors: D S Rosenblatt; B A Cooper; S Lue-Shing; P W Wong; S Berlow; K Narisawa; R Baumgartner
Journal: J Clin Invest Date: 1979-05 Impact factor: 14.808

25 in total

1. Rapid diagnosis and methionine administration: basis for a favourable outcome in a patient with methylene tetrahydrofolate reductase deficiency.

Authors: N G Abeling; A H van Gennip; H Blom; R A Wevers; P Vreken; H L van Tinteren; H D Bakker
Journal: J Inherit Metab Dis Date: 1999-05 Impact factor: 4.982

2. 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 3. 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

4. Deletion of murine choline dehydrogenase results in diminished sperm motility.

Authors: Amy R Johnson; Corneliu N Craciunescu; Zhong Guo; Ya-Wen Teng; Randy J Thresher; Jan K Blusztajn; Steven H Zeisel
Journal: FASEB J Date: 2010-04-06 Impact factor: 5.191

5. Pharmacokinetics of oral betaine in healthy subjects and patients with homocystinuria.

Authors: Bernd C Schwahn; Dieter Hafner; Thomas Hohlfeld; Nina Balkenhol; Maurice D Laryea; Udo Wendel
Journal: Br J Clin Pharmacol Date: 2003-01 Impact factor: 4.335

6. 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

10. 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