J Med Genet. 1991 Jun;28(6):402-5.

Sanfilippo syndrome type D in two adolescent sisters.

Siciliano L, Fiumara A, Pavone L, Freeman C, Robertson D, Morris CP, Hopwood JJ, Di Natale P, Musumeci S, Horwitz AL.

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Joseph P Kennedy Jr Mental Retardation Research Center, University of Chicago.

Abstract

We report on two adolescent sisters with Sanfilippo syndrome type D with some clinical features different from other cases previously described. They are the oldest cases reported to date and provide new clues about the course of the disease. Enzymatic and immunological characterisation of the patients' fibroblasts indicated deficiency of N-acetylglucosamine-6-sulphate sulphatase (GlcNAc-6S sulphatase). However, Northern blot analysis showed apparently normal mRNA encoding GlcNAc-6S sulphatase. These findings suggest that abnormal translation or premature degradation may be responsible for the enzyme defect in these cases of Sanfilippo syndrome type D.

PMID:: 1908010; [PubMed - indexed for MEDLINE]
PMCID:: PMC1016906

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