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Neuropediatrics 2005; 36(5): 285-289
DOI: 10.1055/s-2005-872810
Review Article

Georg Thieme Verlag KG Stuttgart · New York

Neurological Manifestations in Lysosomal Storage Disorders - From Pathology to First Therapeutic Possibilities

B. Hoffmann1 , E. Mayatepek1
  • 1Department of General Paediatrics, University Children's Hospital, Heinrich-Heine-University Duesseldorf, Germany
Further Information

Publication History

Received: April 7, 2005

Accepted after Revision: July 25, 2005

Publication Date:
11 October 2005 (online)

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Abstract

Lysosomal storage disorders (LSDs) represent a large and heterogeneous group of inborn errors of metabolism with a rare incidence for the single disease but a respectable overall incidence of 1 in 7700 live births. Neurological involvement in LSDs is quite common and in the last years knowledge about the pathology and clinical course of LSDs has been rapidly increased. Enormous progress has been made in the treatment of LSDs by enzyme replacement, substrate reduction and research on gene therapy. This review aims to describe the progress made as well as the present limitations in this particular field of metabolic medicine. It focuses on those storage disorders with major neurological symptoms or complications where treatment is already available (Gaucher disease, Fabry disease, mucopolysaccharidosis type I) or predictable (Pompe disease, MPS II, MPS IV, MPS VI).

Key words

Lysosomal storage disorders - Fabry disease - Gaucher disease - MPS I - enzyme replacement therapy - substrate reduction therapy

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MD Bjoern Hoffmann

Department of General Paediatrics
University Children's Hospital
Heinrich-Heine-University Duesseldorf

Moorenstraße 5

40225 Duesseldorf

Germany

Email: hoffmann@med.uni-duesseldorf.de

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