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Mucopolysaccharidosis 3

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Atlas of Genetic Diagnosis and Counseling

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Abstract

In 1962 and 1963, Sanfilippo et al. described eight children with mental retardation and heparan sulfate mucopolysacchariduria and delineated the syndrome which now bears his name. Earlier in 1961, Harris reported a 6-year-old girl with hepatosplenomegaly, a normal skeletal survey, and excretion of large amounts of heparan sulfate in the urine. Sanfilippo syndrome is one of the most common mucopolysaccharidoses (MPS) (1/24,000–1/200,000).

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Authors and Affiliations

  1. Medical Genetics, Shriners Hospitals for Children, Perinatal and Clinical Genetics, Department of Pediatrics, LSU Health Sciences Center, Shreveport, LA, USA

    Harold Chen

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  1. Harold Chen
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Chen, H. (2017). Mucopolysaccharidosis 3. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4939-2401-1_163

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  • DOI: https://doi.org/10.1007/978-1-4939-2401-1_163

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