Studies of the Mechanism of Pyridoxine-Responsive Homocystinuria

  title={Studies of the Mechanism of Pyridoxine-Responsive Homocystinuria},
  author={Margretta R. Seashore and Joseph L Durant and Leon E. Rosenberg},
  journal={Pediatric Research},
Extract: Pharmacologie doses of pyridoxine corrected plasma amino acid abnormalities in two boys (JK and EY) with homocystinuria caused by cystathionine synthase deficiency. Pyridoxine responsiveness was dose-dependent but differed in the two patients. JK required 25 mg pyridoxine per day for correction of plasma methionine, homocystine, and cystine concentrations; EY required more than 50 mg pyridoxine per day. Cystathionine synthase assays on extracts of cultured skin fibroblasts were carried… CONTINUE READING