Document Detail

Enzyme replacement therapy in 12 patients with MPS I-H/S with homozygous p.Leu490Pro mutation.
MedLine Citation:
PMID:  17570076     Owner:  NLM     Status:  MEDLINE    
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.
R S Arora; J Mercer; M Thornley; K Tylee; J E Wraith
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Publication Detail:
Type:  Journal Article     Date:  2007-06-14
Journal Detail:
Title:  Journal of inherited metabolic disease     Volume:  30     ISSN:  1573-2665     ISO Abbreviation:  J. Inherit. Metab. Dis.     Publication Date:  2007 Oct 
Date Detail:
Created Date:  2007-10-10     Completed Date:  2007-10-25     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7910918     Medline TA:  J Inherit Metab Dis     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  821     Citation Subset:  IM    
Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, Hospital Road, Pendlebury, Manchester, M27 1HA, UK.
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MeSH Terms
Child, Preschool
Cohort Studies
Great Britain / epidemiology
Iduronidase / genetics,  metabolism,  therapeutic use*
Mucopolysaccharidosis I / drug therapy*,  enzymology,  genetics
Mutation, Missense*
Pakistan / ethnology
Recombinant Proteins / therapeutic use
Treatment Outcome
Reg. No./Substance:
0/Recombinant Proteins; 147-85-3/Proline; 61-90-5/Leucine; EC

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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