Lysosomal storage disorders: emerging therapeutic options require early diagnosis

Lysosomal storage disorders have been recognised as one of the major groups of genetic disorders affecting children and adults. With over 40 different disorders and a combined prevalence of up to 1:5000 births, this group of disorders is a major public health problem and places an enormous burden on...

Full description

Saved in:
Bibliographic Details
Published in:European journal of pediatrics 2003-12, Vol.162 Suppl 1, p.S34-S37
Main Authors: Meikle, Peter J, Hopwood, John J
Format: Article
Language:English
Subjects:
Biomedical Technology - trends
Births
Bone marrow
Bone Marrow Transplantation
Disease
Enzymes
Hospitals
Humans
Infant, Newborn
Lysosomal Storage Diseases - diagnosis
Lysosomal Storage Diseases - drug therapy
Lysosomal Storage Diseases - physiopathology
Medical screening
Mutation
Neonatal Screening - economics
Neonatal Screening - methods
Prevalence
Proteins
Public health
Stem cell transplantation
Citations: Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Lysosomal storage disorders have been recognised as one of the major groups of genetic disorders affecting children and adults. With over 40 different disorders and a combined prevalence of up to 1:5000 births, this group of disorders is a major public health problem and places an enormous burden on the individuals and families affected. Since the introduction of enzyme replacement therapy for Gaucher disease over 10 years ago there has been considerable progress in the development of enzyme based therapies for other disorders, in addition to alternate therapies including substrate deprivation and gene based therapies. Early diagnosis of these disorders before the onset of irreversible pathologies will lead to better outcomes for current and proposed therapies. In this review we describe the strategies and technology being used for the development of newborn screening for lysosomal storage disorders and discuss the future requirements for the early diagnosis and effective therapy of this group of disorders.
ISSN:0340-6199
1432-1076
DOI:10.1007/s00431-003-1348-y