Sanfilippo syndrome type A in two adult sibs

Am J Med Genet. 1994 Nov 15;53(3):241-4. doi: 10.1002/ajmg.1320530308.

Abstract

We report on 2 adult sibs with Sanfilippo syndrome type A (MPS IIIA; deficiency of heparin sulfamidase) who were less functionally impaired than other reported individuals with this disorder. These individuals expand our understanding of the range of clinical expression that one may see in Sanfilippo syndrome type A.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Female
  • Glycosaminoglycans / urine
  • Humans
  • Male
  • Mucopolysaccharidosis III / diagnosis
  • Mucopolysaccharidosis III / pathology*

Substances

  • Glycosaminoglycans