Lysosomal a-glucosidase

Lysosomal a-glucosidase (Type II) Lethal, infant and adult form... 

II Lysosomal a-glucosidase All organs with lysosomes Infantile form early-onset progressive muscle hypotonia, cardiac failure,death before 2 years juvenile form later-onset myopathy with variable cardiac involvement, adultform limb-girdle muscular dystrophy-like features.Glyco-gen deposits accumulate in lysosomes. 

Furthermore, when castanospermine is fed to mice over 4 5 days, it inhibits lysosomal a-glucosidase and causes the accumulation of partially degraded glycogen within the lysosomal structures [55]. This accumulation resembles the accumulation of glycogen particles in the lysosomal storage disease, Pompe s disease, where individuals lack the lysosomal a-glucosidase [56]. 

II Pompe Lysosomal a- 1,4-glucosidase Cardiomegaly, muscle weakness, death by 2 years Glycogen-like material in inclusion bodies... 

Pyruvate kinase-muscle isozyme Muscle-specific phosphorylase kinase Lysosomal acid a-glucosidase... 

Storage and pipetting of a-glucosidase should be carried out separately from all other lysosomal enzymes to avoid contamination of microtiter plates and pipettes. 

TYPE II POMPE DISEASE (LYSOSOMAL a(1 ->4 )-GLUCOSIDASE DEFICIENCY) ... 

The most serious of the storage diseases involve none of the enzymes mentioned above. Pompe disease is a fatal generalized glycogen storage disease in which a lysosomal a-l,4-glucosidase is lacking. 

Amyloglucosidase (a-glucosidase) a-Galactosidase a-galactosidase [model for lysosomal storage disorder Fabry s disease] (3-Glucosidase... 

Gaucher disease is caused by a deficiency in lysosomal beta-glucosidase activity. Deoxynojirimycins are known inhibitors of several enzymes, which include beta-glucosidase. Several alkylated deoxynojirimycins were screened for correction of N370S Gaucher mutant lysosomal beta-glucosidase activity in an intact cell assay (10). A-(n-nonyl)deoxynojirimycin... 

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