Document Detail


Incidence and prevalence of mucopolysaccharidosis type 1 in the Irish republic.
MedLine Citation:
PMID:  18463126     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Mucopolysaccharidosis type 1 (MPS1) is an autosomal recessive disorder with severe, moderate and mild phenotypes: Hurler, Hurler-Scheie and Scheie syndromes. We estimated incidence (2001-2006) and prevalence (2002 census) of MPS1 in the Irish Republic (ROI) using population data, database and chart review of all live MPS1 patients attending two specialised centres. Patient genotypes, ethnicity, province of origin, age at diagnosis and presenting features were recorded. Thirty-one patients (14 females, 17 males) were alive, 27 of whom were <15 years. Twenty-six patients had Hurler syndrome, four had Hurler-Scheie and one had Scheie syndrome. The birth incidence was 1 in 26 206 births with a carrier frequency of 1 in 81. Of note, 19/26 (73%) Hurler patients were Irish Travellers. Amongst Irish Travellers the incidence was 1 in 371 with a carrier frequency of 1 in 10. This is the highest recorded incidence worldwide. Given the morbidity and mortality associated with delayed treatment we recommend targeted newborn screening for this population.
Authors:
A M Murphy; D Lambert; E P Treacy; A O'Meara; S A Lynch
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Publication Detail:
Type:  Journal Article; Multicenter Study     Date:  2008-05-07
Journal Detail:
Title:  Archives of disease in childhood     Volume:  94     ISSN:  1468-2044     ISO Abbreviation:  Arch. Dis. Child.     Publication Date:  2009 Jan 
Date Detail:
Created Date:  2008-12-23     Completed Date:  2009-02-04     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0372434     Medline TA:  Arch Dis Child     Country:  England    
Other Details:
Languages:  eng     Pagination:  52-4     Citation Subset:  AIM; IM    
Affiliation:
National Centre for Inherited Metabolic Disorders, Childrens University Hospital, Dublin, Republic of Ireland.
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MeSH Terms
Descriptor/Qualifier:
Age of Onset
Child
Child, Preschool
Female
Hematopoietic Stem Cell Transplantation / methods*
Humans
Iduronidase / therapeutic use*
Incidence
Infant
Infant, Newborn
Ireland / epidemiology
Male
Mucopolysaccharidosis I / enzymology,  epidemiology*,  therapy
Neonatal Screening
Phenotype
Prevalence
Registries / statistics & numerical data*
Retrospective Studies
Severity of Illness Index
Transients and Migrants*
Chemical
Reg. No./Substance:
EC 3.2.1.76/Iduronidase

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


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