Pompe disease (also referred to as glycogenosis type II or acid maltase deficiency) is a rare, inherited metabolic disease caused by a deficiency of the enzyme acid glucosidase. This deficiency results in a progressive accumulation of glycogen in the lysosomes. Complete deficiency of this enzyme causes a pronounced cardiomyopathy, muscle weakness and feeding problems already during the first months of life. Without treatment, the children die in the first year of life. With residual enzyme activity a milder course of the disease is seen, charatcerized by increasing muscle weakness and/or breathing problems during adolescence and adulthood. Examination of blood samples shows increased activity of creatinine kinase (CK) and of liver enzymes.
Synonym: Glycogen storage disease type II
Etiology: Deficiency of acid alpha-1,4-glucosidase
Gene: GAA Gene
Mode of inheritance: Autosomal recessive
(Age of onset: first months of life)
(Age of onset: variable, from childhood to adulthood)
Diagnostics: - Measurement of the activity of acid alpha-1,4-glucosidase in lymphocytes or dried blood spot
Molecular genetic analysis of GAA Gene
Alglucosidase alfa (Myozyme®)
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