| Enzyme replacement therapy in 12 patients with MPS I-H/S with homozygous p.Leu490Pro mutation. | |
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MedLine Citation:
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PMID: 17570076 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We describe a cohort of 14 Hurler-Scheie patients homozygous for the p.Leu490Pro missense mutation in the alpha-L-iduronidase gene. Now based in the UK, they are all of Pakistani/Kashmiri descent; 64% were female; 11/14 (79%) had a sibling or cousin with MPS I and the parents are consanguineous in all cases. The median age at diagnosis was 1.8 years (range from antenatal diagnosis to 16.5 years). Twelve were on ERT with recombinant human alpha-L-iduronidase (IDUA; Laronidase, Genzyme) for a median duration of 22.5 months (range 2-71 months) and median age at commencement of ERT was 8.6 years (range 0.4-23.1 years). There was clear improvement in the size of liver and spleen as well as reduction in urine glycosaminoglycans (GAGs). The mean (range) urine GAG levels in mg/mmol creatinine were 63.4 (28.9-105.6), 28.3 (10.9-41.4), 22.8 (12.1-43.1), 15.7 (9.2-24.8) and 16.3 (10.1-21.0) at commencement, 3 months post ERT, 6 months post ERT, 12 months post ERT and 24 months post ERT, respectively. Effects on growth were not clear as there does not seem to be an obvious trend of increase or decrease in height after commencement of ERT and this seems to be the case regardless of the age at which ERT was started. |
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Authors:
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R S Arora; J Mercer; M Thornley; K Tylee; J E Wraith |
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Publication Detail:
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Type: Journal Article Date: 2007-06-14 |
Journal Detail:
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Title: Journal of inherited metabolic disease Volume: 30 ISSN: 1573-2665 ISO Abbreviation: J. Inherit. Metab. Dis. Publication Date: 2007 Oct |
Date Detail:
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Created Date: 2007-10-10 Completed Date: 2007-10-25 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 7910918 Medline TA: J Inherit Metab Dis Country: Netherlands |
Other Details:
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Languages: eng Pagination: 821 Citation Subset: IM |
Affiliation:
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Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, Hospital Road, Pendlebury, Manchester, M27 1HA, UK. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Adult Child Child, Preschool Cohort Studies Female Great Britain / epidemiology Homozygote Humans Iduronidase / genetics, metabolism, therapeutic use* Leucine Male Mucopolysaccharidosis I / drug therapy*, enzymology, genetics Mutation, Missense* Pakistan / ethnology Pedigree Proline Recombinant Proteins / therapeutic use Treatment Outcome |
| Chemical | |
Reg. No./Substance:
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0/Recombinant Proteins; 147-85-3/Proline; 61-90-5/Leucine; EC 3.2.1.76/Iduronidase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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