Mucopolysaccharidosis type I: genetic variants and enzyme replacement therapy experience in Saint-Petersburg

Abstract


In this article we describe a 5th years experience of enzyme replacement therapy (ERT) of mucopolysaccharidosis (MPS) type I, an autosomal recessive disease caused by deficienty of α-L- iduronidase. ERT by Aldurazyme (BioMarin, Genzyme, USA) used for patients with proved MPS I. The drug was intravenously administered in a dose 100 U/kg or 0,58 mg/kg per week. Also we evaluate the prevalence of genetic variants and first symptoms of the disease on a base of results of clinical examination and therapy children with MPS I in 2007—2012 years in 3rd pediatric department of State Pediatric Medical University. Composed recommendations for early diagnostic MPS I for specialists and parents

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About the authors

Natalya Valeryevna Buchinskaya

Saint-Petersburg State Pediatric Medical University

Email: ro-maska@mail.ru
medical laboratory assistant, Chair of Hospital Pediatrics

Olga Valeryevna Kalashnikova

Saint-Petersburg State Pediatric Medical University

Email: koira7@yandex.ru
MD, Ph.D., Нead of 3rd Pediatric Department, Associate Professor Department and Chair of Hospital Pediatrics

Margarita Fedorovna Dubko

Saint-Petersburg State Pediatric Medical University

Email: andrq@rambler.ru
MD, PhD, Associate Professor, Department of Hospital Pediatrics

Mikhail Mikhaylovich Kostik

Saint-Petersburg State Pediatric Medical University

Email: mikhail@yandex.ru
MD, PhD, Associate Professor, Department of Hospital Pediatrics

Vyacheslav Grigoryevich Chasnyk

Saint-Petersburg State Pediatric Medical University

Email: chasnyk@gmail.com
MD, Professor, Head, Chair of Hospital Pediatrics

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Copyright (c) 2013 Buchinskaya N.V., Kalashnikova O.V., Dubko M.F., Kostik M.M., Chasnyk V.G.

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