Defective GAA does not hydrolyze lysosomal glycogen

Stable Identifier
R-HSA-9036729
Type
Reaction [transition]
Species
Homo sapiens
Compartment
lysosomal lumen
Synonyms
Defective GAA does not hydrolyze alpha(1,6) linkages in lysosomal glycogen, Defective GAA does not hydrolyze alpha(1,4) linkages in lysosomal glycogen
ReviewStatus
5/5
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Defective GAA does not hydrolyze lysosomal glycogen
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Normally, lysosomal alpha-glucosidase (GAA) catalyzes the hydrolysis of alpha(1,4) and alpha(1,6) linkages in glycogen, yielding free glucose and shortened glycogen polymers. A wide variety of GAA mutations reduce or eliminate this catalytic activity, leading to glycogen accumulation in lysosomes. The two missense mutant alleles annotated here encode GAA variants with little or no activity and are associated with the infantile form of the disease (early onset with multiple tissues involved) (Brown et al. 1970; Hermans et al. 1991; Zhong et al. 1991). The defect primarily affects skeletal and cardiac muscle, so the disease event is annotated here as a failure of processing of the muscle (GYG1) form of glycogen.
Literature References
PubMed ID Title Journal Year
8420990 Structural and functional changes of lysosomal acid alpha-glucosidase during intracellular transport and maturation

Wisselaar, HA, Kroos, MA, Hermans, MM, van Beeumen, J, Reuser, AJ

J. Biol. Chem. 1993
5264799 Simultaneous absence of alpha-1,4-glucosidase and alpha-1,6-glucosidase activities (pH 4) in tissues of children with type II glycogen storage disease

Brown, BI, Brown, DH, Jeffrey, PL

Biochemistry 1970
3049072 Primary structure and processing of lysosomal alpha-glucosidase; homology with the intestinal sucrase-isomaltase complex

Hoefsloot, LH, Hoogeveen-Westerveld, M, Kroos, MA, van Beeumen, J, Reuser, AJ, Oostra, BA

EMBO J. 1988
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Catalyst Activity

alpha-glucosidase activity of GAA mutants [lysosomal lumen]

Physical Entity
GAA mutants [lysosomal lumen] (Homo sapiens)
Activity
alpha-glucosidase activity (GO:0090599)
Normal reaction
GAA hydrolyzes lysosomal glycogen (Homo sapiens)
Functional status

Loss of function of GAA mutants [lysosomal lumen]

Normal Entity
Disease Entity
Status
Disease
Name Identifier Synonyms
glycogen storage disease II DOID:2752 Lysosomal alpha-1,4-glucosidase deficiency (disorder), deficiency of glucoamylase, glycogen storage disease type II, acid maltase deficiency, deficiency of maltase, Glycogen storage disease, type II (disorder), Pompe's disease, Generalized glycogenosis (disorder), Glycogenosis, type 2
Cross References
Mondo
Authored
D'Eustachio, P  (2014-03-25)
Reviewed
Jassal, B  (2014-03-29)
Created
D'Eustachio, P  (2018-02-08)
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