lysosomal alpha-glucosidase; alpha-1,4-glucosidase; acid alpha glucosidase; acid maltase (GAA)

Function

• degradation of glycogen to glucose in lysosomes
• hydrolysis of terminal, non-reducing 1,4-linked alpha-D-glucose residues with release of alpha-D-glucose
• different forms of acid glucosidase via proteolytic processing
• phosphorylation of mannose residues facilitates efficient transport to lysosomes via mannose 6-phosphate receptor

Structure

• belongs to the glycosyl hydrolase 31 family
• contains 1 P-type (trefoil) domain

Compartment

lysosome

Pathology

• defects associated with glycogen storage disease-2

Polymorphism

3 common alleles of GAA

Pharmacology

see alglucosidase alfa (Myozyme)

Laboratory

• GAA gene mutation
• acid alpha glucosidase measurement
  • acid alpha glucosidase in fibroblasts
  • acid alpha glucosidase in leukocytes
  • acid alpha glucosidase in tissue
    • acid alpha glucosidase in small intestine tissue
  • acid alpha glucosidase in amniotic fluid
  • acid alpha glucosidase in dried blood spot
  • acid alpha glucosidase in semen
  • acid alpha glucosidase in serum/plasma

More general terms

• glucosidase
• lysosomal hydrolase
• glycoprotein

More specific terms

• alglucosidase alfa (Myozyme, Lumizyme)

Additional terms

• glycogen storage disease type-II (Pompe type glycogen storage disease, infantile acid maltase deficiency)

Database

• UniProt: http://www.uniprot.org/uniprot/P10253.html
• OMIM: https://mirror.omim.org/entry/606800
• OMIM: https://mirror.omim.org/entry/232300