[Two new mutations in the gene that codes for acid alpha-glucosidase in an adolescent with late-onset Pompe disease].

Abstract excerpt

INTRODUCTION. Glycogen storage disease type II, or Pompe disease, is a lysosomal disease with an autosomal recessive pattern of inheritance. Late-onset Pompe disease is a progressive metabolic myopathy caused by decreased activity of the enzyme acid alpha-glucosidase (GAA), which gives rise to reduced degradation and later accumulation of glycogen in the lysosomes and cell cytoplasm. CASE REPORT. A 16-year-old...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Alanine Transaminase
• Share to Aspartate Aminotransferases