Pyridoxamine and pyridoxal are more effective than pyridoxine in rescuing folding-defective variants of human alanine:glyoxylate aminotransferase causing primary hyperoxaluria type I.

@article{Oppici2015PyridoxamineAP,
  title={Pyridoxamine and pyridoxal are more effective than pyridoxine in rescuing folding-defective variants of human alanine:glyoxylate aminotransferase causing primary hyperoxaluria type I.},
  author={Elisa Oppici and Sonia Fargue and E. Shelley Reid and Philippa B. Mills and Peter Theodore Clayton and Christopher J. Danpure and Barbara Cellini},
  journal={Human molecular genetics},
  year={2015},
  volume={24 19},
  pages={5500-11}
}
Vitamin B6 in the form of pyridoxine (PN) is one of the most widespread pharmacological therapies for inherited diseases involving pyridoxal phosphate (PLP)-dependent enzymes, including primary hyperoxaluria type I (PH1). PH1 is caused by a deficiency of liver-peroxisomal alanine: glyoxylate aminotransferase (AGT), which allows glyoxylate oxidation to oxalate leading to the deposition of insoluble calcium oxalate in the kidney. Only a minority of PH1 patients, mostly bearing the F152I and G170R… CONTINUE READING