Reduction of elevated plasma globotriaosylsphingosine in patients with classic Fabry disease following enzyme replacement therapy

Mariëlle J. van Breemen (1) , Saskia M. Rombach (2) , Nick Dekker (1) , Ben J. Poorthuis (1) , Gabor E. Linthorst (2) , Aeilko H. Zwinderman (3) , Frank Breunig (4) , Christoph Wanner (4) , Johannes M. Aerts (1) , Carla E. Hollak (2)

1 Department of Medical Biochemistry
2 Department of Internal Medicine/Endocrinology and Metabolism
3 Department of Clinical Epidemiology
4 Department of Internal Medicine/Nephrology

Fabry disease is treated by two-weekly infusions with α-galactosidase A, which is deficient in this X-linked globotriaosylceramide (Gb3) storage disorder. Elevated plasma globotriaosylsphingosine (lysoGb3) is a hallmark of classical Fabry disease. We investigated effects of enzyme replacement therapy (ERT) on plasma levels of lysoGb3 and Gb3 in patients with classical Fabry disease treated with agalsidase alfa at 0.2mg/kg, agalsidase beta at 0.2mg/kg or at 1.0mg/kg bodyweight.

Mots clés: eNOS; ERT; Gb2; Gb3; gene; LVH; lysoGb3; OPA; Fabry disease; Globotriaosylsphingosine; Enzyme replacement therapy (ERT)

Mariëlle J. van Breemen, Saskia M. Rombach, Nick Dekker, Ben J. Poorthuis, Gabor E. Linthorst, et al.. Reduction of elevated plasma globotriaosylsphingosine in patients with classic Fabry disease following enzyme replacement therapy. Biochimica et Biophysica Acta - Molecular Basis of Disease, 2010, 1812 (1), pp.70. ⟨10.1016/j.bbadis.2010.09.007⟩. ⟨hal-00642429⟩