Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/69903
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Type: Journal article
Title: Combined Hurler and Sanfilippo syndrome in a sibling pair
Author: Sun, A.
Hopwood, J.
Thompson, J.
Cederbaum, S.
Citation: Molecular Genetics and Metabolism, 2011; 103(2):135-137
Publisher: Academic Press Inc Elsevier Science
Issue Date: 2011
ISSN: 1096-7192
1096-7206
Statement of
Responsibility: 
Angela Sun, John J. Hopwood, Jerry Thompson and Stephen D. Cederbaum
Abstract: The mucopolysaccharidoses (MPS) are lysosomal storage disorders caused by defects in the enzymes involved in the degradation of glycosaminoglycans. Hurler syndrome (MPS I) and Sanfilippo syndrome (MPS III) are among the more common diseases in the group, each occurring with an incidence of approximately 1 in 100,000. We present a case of siblings, born of a consanguineous union, affected with both MPS I and MPS IIIa. The diagnoses were confirmed with fibroblast enzyme assays and sequence analysis of the genes, which identified homozygous mutations in IDUA and SGSH. We discuss their clinical features and course and examine the psychosocial aspects of their case, specifically, the decision-making process that the medical team and family faced regarding treatment with enzyme replacement therapy.
Keywords: Hurler syndrome; Sanfilippo syndrome; Enzyme replacement therapy; Psychosocial issues
Rights: © 2011 Elsevier Inc. All rights reserved.
RMID: 0020109911
DOI: 10.1016/j.ymgme.2011.02.011
Description (link): http://www.sciencedirect.com/science/journal/10967192
Appears in Collections:Paediatrics publications

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