Enzyme activities of α-glucosidase in Japanese neonates with pseudodeficiency alleles.

ABSTRACT: Lysosomal storage disorders (LSDs) are caused by defective enzyme activities in lysosomes, characterized by the accumulation of sphingolipids, glycolipids, oligosaccharides, mucopolysaccharides, the oxidation products of cholesterol, and other biological substances. A growing number of clinical studies have suggested the enhanced efficacy of existing therapies, including enzyme replacement therapy, which is effective when it is initiated during the presymptomatic period. Thus, the identification of disease-affected individuals by newborn screening has been considered an effective platform. Previous studies have suggested that the discrimination of infantile-onset Pompe disease (IOPD) requires multi-step examination of GAA enzyme activity using the fluorometric technique. In sharp contrast,

SUBMITTER: Mashima R 

PROVIDER: S-EPMC5503834 | biostudies-literature | 2017 Sep

REPOSITORIES: biostudies-literature