Please use this identifier to cite or link to this item:
|Scopus||Web of Science®||Altmetric|
|Title:||Combined Hurler and Sanfilippo syndrome in a sibling pair|
|Citation:||Molecular Genetics and Metabolism, 2011; 103(2):135-137|
|Publisher:||Academic Press Inc Elsevier Science|
|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.|
|Appears in Collections:||Paediatrics publications|
Files in This Item:
There are no files associated with this item.
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.