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Title: Effectiveness of Early Hematopoietic Stem Cell Transplantation in Preventing Neurocognitive Decline in Mucopolysaccharidosis Type II: A Case Series
Authors: Owens, Penny ;Selvanathan, A.;Ellaway, C.;Wilson, C.;Shaw, P.J.;Bhattacharya, K.
Affliation: Central Coast Local Health District
Gosford Hospital
Issue Date: Apr-2018
Source: 41:81-89
Journal title: JIMD Reports
Department: Biochemistry
Abstract: The early progressive form of the X-linked disorder, Hunter syndrome or mucopolysaccharidosis type II (MPS II) (OMIM #309900), is characterized by cognitive decline, and pulmonary and cardiac complications that often cause death before 20 years of age. Deficiency of the lysosomal enzyme, iduronate-2-sulfatase (EC results in deposition of the glycosaminoglycans, dermatan, and heparan sulfate in various tissues. In recent years, enzyme replacement therapy (ERT) has become the mainstay of treatment, but is expensive and ineffective in arresting cognitive decline. Hematopoietic stem cell transplantation (HSCT) also provides enzyme replacement, and may be effective in stabilizing neurocognitive function if initiated early, though data are limited. We present a case series of four patients who demonstrated neurocognitive stabilization with early HSCT. HSCT is a potentially underutilized treatment strategy for select groups of MPS II patients.
DOI: 10.1007/8904_2018_104
ISSN: 2192-8304
Publicaton type: Journal Article
Keywords: Research
Study or Trial: Case Series and Case Reports
Appears in Collections:Health Service Research

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