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Combined Hurler and Sanfilippo syndrome in a sibling pair.

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.

journal_name

Mol Genet Metab

journal_title

Molecular genetics and metabolism

authors

Sun A,Hopwood JJ,Thompson J,Cederbaum SD

doi

10.1016/j.ymgme.2011.02.011

subject

Has Abstract

pub_date

2011-06-01 00:00:00

pages

135-7

issue

2

eissn

1096-7192

issn

1096-7206

pii

S1096-7192(11)00054-0

journal_volume

103

pub_type

杂志文章

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