Cystathionine β-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis.

Thus, although there was an increase in median fibroblast CBS activities from NR, PR and FR (0.0, 1.5, and 4.0% activity in controls, respectively) and in median plasma CBS activity from patients off pyridoxine (either taken at diagnosis or during periods of non‐compliance or after short pyridoxine wash‐out periods), these did not reach statistical significance (0% control activity in NR, 4.5% in PR, 7.5% in FR and 5% in ER).

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