Pompe Disease: New Developments in an Old Lysosomal Storage Disorder.
Biomolecules
; 10(9)2020 09 18.
Article
em En
| MEDLINE
| ID: mdl-32962155
ABSTRACT
Pompe disease, also known as glycogen storage disease type II, is caused by the lack or deficiency of a single enzyme, lysosomal acid alpha-glucosidase, leading to severe cardiac and skeletal muscle myopathy due to progressive accumulation of glycogen. The discovery that acid alpha-glucosidase resides in the lysosome gave rise to the concept of lysosomal storage diseases, and Pompe disease became the first among many monogenic diseases caused by loss of lysosomal enzyme activities. The only disease-specific treatment available for Pompe disease patients is enzyme replacement therapy (ERT) which aims to halt the natural course of the illness. Both the success and limitations of ERT provided novel insights in the pathophysiology of the disease and motivated the scientific community to develop the next generation of therapies that have already progressed to the clinic.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Terapia Genética
/
Doença de Depósito de Glicogênio Tipo II
/
Doenças por Armazenamento dos Lisossomos
/
Alfa-Glucosidases
/
Terapia de Reposição de Enzimas
Limite:
Humans
Idioma:
En
Revista:
Biomolecules
Ano de publicação:
2020
Tipo de documento:
Article