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Enzyme Replacement Therapy in Lysosomal Storage Diseases

  • Vassili ValayannopoulosEmail author
Chapter
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Part of the Advances in Predictive, Preventive and Personalised Medicine book series (APPPM, volume 6)

Abstract

Lysosomal storage disorders are inherited metabolic disorders resulting from progressive accumulation of non-recycled compounds that build-up in the lysosomes before expanding to most of body tissues and organs. Impaired enzyme activity, molecular trafficking and transport of these proteins resulting from genetic mutations constitute the main pathogenic mechanisms. Clinical manifestations include storage signs and symptoms such as enlarged liver and spleen, coarse features, skeletal deformities and many of them are associated with a neurodegenerative course. Clinical suspicion can be supported by detection of accumulation of abnormal compounds such as mucopolysaccharides, oligosaccharides, sialic acid and free cholesterol in body fluids and tissues, confirmed by enzymatic assays and molecular testing allowing also prenatal diagnosis and genetic counseling. Management of lysosomal storage disorders can be symptomatic but also specific for some of them with two main treatment modalities: hematopoietic stem cell transplantation and enzyme replacement therapy. Despite recent progress in the field, access of these therapies to key organs such as the brain and bone remain challenging and may be addressed in the near future by original or complementary approaches including molecular chaperones, substrate inhibitors and gene therapy. From this perspective, medical awareness and early detection constitute the cornerstones for early intervention and hope for a better outcome.

Keywords

Lysosomal storage disease Enzyme replacement therapy Mucopolysaccharidosis type I Mucopolysaccharidosis type II Mucopolysaccharidosis type VI Gaucher disease Pompe disease Fabry disease Personalized medicine 

Abbreviations

(rh)GAA

(recombinant) a-glucosidase

CNS

Central nervous system

CRIM

Cross-reactive immunological material

ERT

Enzyme replacement therapy

FVC

Forced vital capacity

GAG

Glycosaminoglycans

GSD

Glycogen storage disease

HSCT

Hematopoietic stem-cell transplantation

i.v.

Intravenous

IAR

Infusion-associated reaction

LSD

Lysosomal storage disease

MPS

Mucopolysaccharidosis

MRI

Magnetic resonance imaging

U

Units

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© Springer Science+Business Media Dordrecht 2015

Authors and Affiliations

  1. 1.Reference Center for Inherited Metabolic Disease in Children and Adults (MaMEA) and IMAGINE InstituteNecker-Enfants Malades Hospital and Paris Descartes UniversityParis Cedex 15France

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