Page 173 - Biochemistry PharmD General

Type – II Glycogenosis (Pompe’s
Disease)

• It is a fatal type, caused by deficiency of a lysosomal
enzyme glucosidase (acid maltase), whose function is
to degrade glycogen in the cell.

• People with Pompe’s disease cannot produce the
enzyme acid alpha-glucosidase, or GAA gene in
lysosomes.

• Glycogen accumulates in lysosomes of tissues,
especially the heart, leading to cardiomegaly, heart
failure and death.

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