Efficacy and pharmacokinetics of betaine in CBS and cblC deficiencies: a cross-over randomized controlled trial

Efficacy and pharmacokinetics of betaine in CBS and cblC deficiencies: a cross-over randomized controlled trial

Abstract Background Betaine is an “alternate” methyl donor for homocysteine remethylation catalyzed by betaine homocysteine methyltransferase (BHMT), an enzyme mainly expressed in the liver and kidney. Betaine has been used for more than 30 years in pyridoxine non-responsive cystathionine beta-synth...

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Bibliographic Details
Main Authors: Apolline Imbard, Artemis Toumazi, Sophie Magréault, Nuria Garcia-Segarra, Dimitri Schlemmer, Florentia Kaguelidou, Isabelle Perronneau, Jérémie Haignere, Hélène Ogier de Baulny, Alice Kuster, François Feillet, Corinne Alberti, Sophie Guilmin-Crépon, Jean-François Benoist, Manuel Schiff
Format: Article
Language:English
Published: BMC 2022-11-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Betaine
Homocysteine
Hyperhomocysteinemia
Cystathionine-beta-synthase deficiency
cblC deficiency
Methionine
Online Access:https://doi.org/10.1186/s13023-022-02567-4

Internet

https://doi.org/10.1186/s13023-022-02567-4

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