Enzyme replacement therapy in mucopolysaccharidosis type I.

Enzyme replacement therapy in mucopolysaccharidosis type I. Research Abstract Details 

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Enzyme replacement therapy in mucopolysaccharidosis type I. Abstract Text:

Mucopolysaccharidosis (MPS) type I is a lysosomal storage disorder caused by deficiency of the enzyme alpha-L-iduronidase (IDUA), which presents with a wide spectrum of phenotypes. Recently, enzyme replacement therapy (ERT) became available for patients with MPS I and has been demonstrated to be safe and effective in patients with the milder Hurler-Scheie and Scheie phenotypes. Treatment for 26 weeks with recombinant human IDUA (laronidase) has been shown to significantly increase the percentage of predicted normal forced vital capacity and the distance walked in the 6-minute walk test. There was also a clear reduction in the volume of the liver and the levels of urinary glycosaminoglycan excretion. The drug was generally well tolerated. There were no drug-related severe adverse events, and although the majority of patients developed IgG antibodies, these declined by the end of the study. Conclusion: ERT seems to be a very promising new therapeutic regimen for patients with MPS I, especially for those with the less severe variants. However, as laronidase does not cross the blood-brain barrier it will probably not influence the central nervous manifestations in the most severely affected patients with the Hurler phenotype, although it may improve general lung and heart function, making bone marrow transplantation easier to tolerate.

Enzyme replacement therapy in mucopolysaccharidosis type I. Publishing Authors By Initials

For similar genetic phenomena: phenotype research abstracts see: genetic phenomena: phenotype research

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Enzyme replacement therapy in mucopolysaccharidosis type I. Journal Published:

PUBLICATION TYPE: Review

Journal: Acta paediatrica (Oslo, Norway : 1992). Supplement

VOLUME: 94

Page Numbers: 58-60; discussion 57

Journal Abbreviation: Acta Paediatr Suppl

ISSN: 0803-5326

DAY: 12

MONTH: Mar

YEAR: 2005

Enzyme replacement therapy in mucopolysaccharidosis type I. Information

Number of References: 12

LANGUAGE: eng

NlmUniqueID: 9315043

Enzyme replacement therapy in mucopolysaccharidosis type I. Keywords Mesh Terms:

KEYWORDS: Phenotype

MESH TERMS: therapy

Chemical & Substance for Abstract: Enzyme replacement therapy in mucopolysaccharidosis type I. Information

Substance Name: Iduronidase

Registry Number: EC 3.2.1.76

Grant and Affiliation Information for Enzyme replacement therapy in mucopolysaccharidosis type I.

AFFILIATION: Children's Hospital, University of Mainz, Mainz, Germany. miebach@kinder.klinik.uni-mainz.de

Country: Norway

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MEDLINETA: Acta Paediatr Suppl

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