Sanfilippo syndrome type D in two adolescent sisters

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 patie...

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Bibliographic Details
Published in:Journal of medical genetics 1991-06, Vol.28 (6), p.402-405
Main Authors: Siciliano, L, Fiumara, A, Pavone, L, Freeman, C, Robertson, D, Morris, C P, Hopwood, J J, Di Natale, P, Musumeci, S, Horwitz, A L
Format: Article
Language:English
Subjects:
Adolescent
Adult
Biological and medical sciences
Blotting, Western
Female
Fibroblasts - enzymology
Humans
Medical sciences
Metabolic diseases
mRNA
Mucopolysaccharidosis III - genetics
N-acetylglucosamine-6-sulfatase
Sibling Relations
Sulfatases - deficiency
Sulfatases - genetics
Sulfatases - isolation & purification
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Summary: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.
ISSN:0022-2593
1468-6244
1468-6244
DOI:10.1136/jmg.28.6.402