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Enzyme replacement therapy in a murine model of mucopolysaccharidosis type IIIA / by Briony Lee Gliddon.

Addenda page on inside back cover. / Bibliography: leaves 153-176. / xiii, 176 leaves ; ill. (some col.) ; 30 cm / Title page, contents and abstract only. The complete thesis in print form is available from the University Library. / Mucopolysaccharideosis type IIIA (MPS IIIA, Sanfilippo A syndrome) is an autosomal recessive lysosomal storage disease, with a prevalence in Australia of 1 in 114,000. MPS IIIA is caused by a deficiency of the lysosomal enzyme sulphamidase which is needed together with other exohydrolases and a N-acetyltransferase to break down the glycosaminoglycan heparan sulphate to sulphate and monosaccharides. Patients are characterised by severe central nervous systems degeneration together with mild somatic involvement; this disproportionate correlation is unique amongst the mucopolysaccharidoses. Features include severe behavioural disturbances, such as hyperactivity and aggressiveness, coarse hair and mild hepatosplenomegaly. Death is usually in the mid- to late-teenage years. Enzyme replacement therapy by intravenous administration of recombinant human NS (rhNS) has been proposed as a potential therapy for MPS IIIA. This thesis suggests that rhNS, entering the brain in the first few weeks of life, is able to retard the behaviour and learning difficulties in MPS IIIA mice. / Thesis (Ph.D.)--University of Adelaide, Dept. of Paediatrics, 2003

Identiferoai:union.ndltd.org:ADTP/263142
Date January 2002
CreatorsGliddon, Briony Lee
Source SetsAustraliasian Digital Theses Program
Languageen_US
Detected LanguageEnglish

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