USE OF TETRAHYDROBIOPTERIN AS A MARKER AND A THERAPEUTIC AGENT FOR FABRY DISEASE

摘要

Blood and tissue markers of the metabolic status, risk of health complications in Fabry disease patients and as a biomarker to follow the efficacy of treatment in animal models and patients with Fabry disease comprising tetrahydrobiopterin (BH4), precursors and metabolites of BH4, and other related co-factors is disclosed herein. The present invention further describes the use of BH4 therapy as a treatment option for Fabry disease to prevent, slow or reverses vascular cardiac and renal manifestations of Fabry disease.