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Mol Genet Metab. 2011 Jun;103(2):135-7. doi: 10.1016/j.ymgme.2011.02.011. Epub 2011 Feb 22.

Combined Hurler and Sanfilippo syndrome in a sibling pair.

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UCLA Intercampus Medical Genetics Training Program, Cedars-Sinai Medical Center, Los Angeles, CA, USA.


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.

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