Tetrahydrobiopterin deficiency in the pathogenesis of Fabry disease.

  title={Tetrahydrobiopterin deficiency in the pathogenesis of Fabry disease.},
  author={Jin-Song Shen and Erland Arning and Michael L. West and Taniqua S. Day and Shuyuan Chen and Xing-Li Meng and Sabrina Forni and Nathan H. McNeill and Ozlem Goker-Alpan and Xuan Wang and Paula Ashcraft and David F. Moore and Seng H. Cheng and Raphael Schiffmann and Teodoro G Bottiglieri},
  journal={Human molecular genetics},
  volume={26 6},
Fabry disease is caused by deficient activity of α-galactosidase A and subsequent accumulation of glycosphingolipids (mainly globotriaosylceramide, Gb3), leading to multisystem organ dysfunction. Oxidative stress and nitric oxide synthase (NOS) uncoupling are thought to contribute to Fabry cardiovascular diseases. We hypothesized that decreased tetrahydrobiopterin (BH4) plays a role in the pathogenesis of Fabry disease. We found that BH4 was decreased in the heart and kidney but not in the… CONTINUE READING
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