[HTML][HTML] Cystathionine β-synthase deficiency: Effects of betaine supplementation after methionine restriction in B6-nonresponsive homocystinuria
RH Singh, WD Kruger, L Wang, M Pasquali… - Genetics in …, 2004 - nature.com
RH Singh, WD Kruger, L Wang, M Pasquali, LJ Elsas
Genetics in Medicine, 2004•nature.comPurpose: For treatment of cystathionine β-synthase (CβS) deficiency, we determined the
effect of betaine (N, N, N-trimethylglycine) therapy and examined the genotype-phenotype
relationships to betaine. Methods: In five patients with B6-nonresponsive homocystinuria, we
defined the CβS genotypes and determined metabolic responses to betaine as an additive
to traditional dietary methionine restriction. Results: After betaine therapy, tHcy declined
(mean 47.4 μmol/L; range:− 21.2 to− 104.0 μmol/L; P= 0.02), whereas total plasma cysteine …
effect of betaine (N, N, N-trimethylglycine) therapy and examined the genotype-phenotype
relationships to betaine. Methods: In five patients with B6-nonresponsive homocystinuria, we
defined the CβS genotypes and determined metabolic responses to betaine as an additive
to traditional dietary methionine restriction. Results: After betaine therapy, tHcy declined
(mean 47.4 μmol/L; range:− 21.2 to− 104.0 μmol/L; P= 0.02), whereas total plasma cysteine …
Abstract
Purpose: For treatment of cystathionine β-synthase (CβS) deficiency, we determined the effect of betaine (N, N, N-trimethylglycine) therapy and examined the genotype-phenotype relationships to betaine.
Methods: In five patients with B6-nonresponsive homocystinuria, we defined the CβS genotypes and determined metabolic responses to betaine as an additive to traditional dietary methionine restriction.
Results: After betaine therapy, tHcy declined (mean 47.4 μmol/L; range:− 21.2 to− 104.0 μmol/L; P= 0.02), whereas total plasma cysteine and methionine did not change. Plasma methionine/tHcy ratios increased by 5.45 (range:+ 1.5 to 15.3; P= 0.05) inpatients with B6-nonresponsive alleles.
Conclusion: Betaine improves metabolic control in B6-nonresponsive patients with homocystinuria after optimum dietary control.
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