Abstract
A fourth genetic subtype of the Sanfilippo syndrome due to a deficiency of N-acetylglucosamine-6-sulfate sulfatase which is required for heparan sulfate degradation has recently been described. The clinical findings of two patients with a deficiency of this enzyme are reported here. Differential diagnosis from the other types of the Sanfilippo syndrome cannot be made by clinical criteria, but rests on specific enzyme assays. Since patients of either sex are known and consanguinity was present in one case, autosomal recessive inheritance is most probable.
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References
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Gatti, R., Borrone, C., Durand, P. et al. Sanfilippo type D disease: Clinical findings in two patients with a new variant of mucopolysaccharidosis III. Eur J Pediatr 138, 168–171 (1982). https://doi.org/10.1007/BF00441147
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DOI: https://doi.org/10.1007/BF00441147