منابع مشابه
Pompe disease gene therapy.
Pompe disease is an autosomal recessive metabolic myopathy caused by the deficiency of the lysosomal enzyme acid alpha-glucosidase and results in cellular lysosomal and cytoplasmic glycogen accumulation. A wide spectrum of disease exists from hypotonia and severe cardiac hypertrophy in the first few months of life due to severe mutations to a milder form with the onset of symptoms in adulthood....
متن کاملLentiviral Stem Cell Gene Therapy for Pompe Disease.
Pompe disease is a rare autosomal recessive metabolic disorder caused by defi ciency of lysosomal hydrolase acid α-glucosidase (GAA). GAA degrades glycogen to glucose, and defi ciency results in generalized tissue glycogen accumulation leading to cardiorespiratory failure in the early-onset patients within the fi rst year of life. Enzyme replacement therapy (ERT) by administration of recombinan...
متن کاملEnzyme replacement therapy (ERT) in pompe disease
Pompe disease (OMIM 232300) is an AR glycogenosis due to deficiency of the lysosomal enzyme alpha-glucosidase (GAA). As a result, glycogen storage occurs in muscles and patients present a wide clinical spectrum ranging from early onset severe cardiomyopathy (EOPD) to adult onset forms (LOPD). Severe loss of GAA activity correlates with early onset and severe phenotypes. Residual enzyme activity...
متن کاملA New Mutation Causing Severe Infantile-Onset Pompe Disease Responsive to Enzyme Replacement Therapy
Pompe disease (PD), also known as “glycogen storage disease type II (OMIM # 232300)” is a rare autosomal recessive disorder characterized by progressive glycogen accumulation in cellular lysosomes. It ultimately leads to cellular damage. Infantile-onset Pompe disease (IOPD) is the most severe type of this disease and is characterized by severe hypertrophic cardiomyopathy and generalized hypoton...
متن کاملPompe disease
Pompe disease is an autosomal recessive condition with an incidence of around 1 in 40,000 in the general population, and is caused by a deficiency of the enzyme acid alphaglucosidase. Clinical features occur due to the deposition and accumulation of glycogen within lysosomes, most notably those within the cardiac and skeletal muscles. The extent of this enzyme deficiency affects both the age of...
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ژورنال
عنوان ژورنال: Human Molecular Genetics
سال: 2011
ISSN: 0964-6906,1460-2083
DOI: 10.1093/hmg/ddr174