Orchel-Szastak K, Ptak K, Hrnciar K, Pilch B, Kania U, Bik-Multanowski M. Early enzyme replacement therapy – hope for patients with mucopolysaccharidosis Type II. Pediatric Endocrinology Diabetes and Metabolism. 2017;23(2).
APA
Orchel-Szastak, K., Ptak, K., Hrnciar, K., Pilch, B., Kania, U., & Bik-Multanowski, M. (2017). Early enzyme replacement therapy – hope for patients with mucopolysaccharidosis Type II. Pediatric Endocrinology Diabetes and Metabolism, 23(2).
Chicago
Orchel-Szastak, Karolina, Katarzyna Ptak, Katarzyna Hrnciar, Bożena Pilch, Urszula Kania, and Mirosław Bik-Multanowski. 2017. "Early enzyme replacement therapy – hope for patients with mucopolysaccharidosis Type II". Pediatric Endocrinology Diabetes and Metabolism 23 (2).
Harvard
Orchel-Szastak, K., Ptak, K., Hrnciar, K., Pilch, B., Kania, U., and Bik-Multanowski, M. (2017). Early enzyme replacement therapy – hope for patients with mucopolysaccharidosis Type II. Pediatric Endocrinology Diabetes and Metabolism, 23(2).
MLA
Orchel-Szastak, Karolina et al. "Early enzyme replacement therapy – hope for patients with mucopolysaccharidosis Type II." Pediatric Endocrinology Diabetes and Metabolism, vol. 23, no. 2, 2017.
Vancouver
Orchel-Szastak K, Ptak K, Hrnciar K, Pilch B, Kania U, Bik-Multanowski M. Early enzyme replacement therapy – hope for patients with mucopolysaccharidosis Type II. Pediatric Endocrinology Diabetes and Metabolism. 2017;23(2).
We present an unexpected outcome of 10 years of enzyme replacement therapy of a boy with mucopolysaccharidosis type II. Due to a positive familiar history (severe disease course in a sibling) the diagnosis was established in the first month of life. Treatment with Elaprase was introduced two months later. Since then normal physical and mental development is observed. The patient presents only relatively large head circumference (+2.1 SD) and slight decrease of joints mobility. In our opinion, early introduction of enzyme replecement therapy could attenuate the disease course.
Keywords
mucopolysaccharidosis type II, Hunter disease, enzyme replacement therapy, idursulfase
