Purpose: For treatment of cystathionine beta-synthase (CbetaS) 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 CbetaS genotypes and determined metabolic responses to betaine as an additive to traditional dietary methionine restriction.
Results: After betaine therapy, tHcy declined (mean 47.4 micromol/L; range: -21.2 to -104.0 micromol/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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