Glycogen Storage Disease, Type II - Springer LinkComplete correction of acid ?-glucosidase deficiency in Pompe disease
fibroblasts in vitro, and lysosomally targeted expression in neonatal rat cardiac
and skeletal muscle. DF Pauly1,2, DC Johns2, LA Matelis1,2, JH Lawrence2,3,
BJ Byrne1,3,4 and PD Kessler1,2. 1The Peter Belfer Cardiac Laboratory and
Departments of ...Pompe diseaseDetermination of Acid ?-Glucosidase Activity in. Blood Spots as a Diagnostic Test
for Pompe Disease. Kandiah Umapathysivam, John J. Hopwood, and Peter J.
Meikle*. Background: Pompe disease is an autosomal recessive disorder of
glycogen metabolism that is characterized by a deficiency of the lysosomal acid ...Clinical and Metabolic Correction of Pompe Disease by Enzyme ...Pompe disease, or glycogen storage disease type II, is an autosomal recessive
disorder of glycogen metabolism caused by a deficiency of lysosomal acid ?-
glucosidase. Patients with Pompe disease are unable to degrade gly- cogen
stored in the lysosome, leading to the accumulation of this substrate in lysosomal
storage ...260. Long-Term Neurologic Correction in the Pompe Disease Mice ...Caused by deficiency of acid maltase (acid ?-glucosi- dase), leading to the
pathological accumulation of glyco- gen in lysosomes, predominantly in the
skeletal muscle, heart, and liver a. Virtual absence of ?-glucosidase activity in
infantile form (Pompe disease) b. Considerable residual enzyme activity in the
great majority ...The molecular basis for Pompe disease revealed by the ... - bioRxivGLYCOGEN storage disease type II (GSD-II), also known as Pompe disease or
acid maltase deficiency (AMD), is an autosomal recessive genetic disorder. GSD-
II is heterogeneous in nature, with various molecular defects in the lysosomal
acid -glucosidase (GAA) gene resulting in partial or complete deficiency of GAA ...Late-Onset Pompe Disease - AANEMPompe disease is a fatal genetic muscle disorder caused by a deficiency of acid
?-glucosidase (GAA), a glycogen degrad- ing lysosomal enzyme. GAA-deficient (
AMD) Japanese quails exhibit progressive myopathy and cannot lift their wings,
fly, or right themselves from the supine position (flip test). Six 4-wk-old acid ...
