High-dose enzyme replacement therapy in murine Hurler syndrome
L Ou, T Herzog, BL Koniar, R Gunther… - Molecular genetics and …, 2014 - Elsevier
Abstract Mucopolysaccharidosis type I (MPS I) is an autosomal recessive disease that is
systemic, including progressive neurodegeneration, mental retardation and death before the
age of 10 years. MPS I results from deficiency of α-l-iduronidase (IDUA) in lysosomes and
subsequent accumulation of glycosaminoglycans (GAG). Clinical enzyme replacement
therapy (ERT) with intravenous laronidase reverses some aspects of MPS I disease (eg,
hepatomegaly, splenomegaly, glycosaminoglycanuria) and ameliorates others (eg …
systemic, including progressive neurodegeneration, mental retardation and death before the
age of 10 years. MPS I results from deficiency of α-l-iduronidase (IDUA) in lysosomes and
subsequent accumulation of glycosaminoglycans (GAG). Clinical enzyme replacement
therapy (ERT) with intravenous laronidase reverses some aspects of MPS I disease (eg,
hepatomegaly, splenomegaly, glycosaminoglycanuria) and ameliorates others (eg …