The Boa Constrictor

Pompe Disease

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.

Pompe Disease | SphinCS - Clinical Science for LSD

Synonym: Glycogen storage disease type II
Etiology: Deficiency of acid alpha-1,4-glucosidase
Gene: GAA Gene
Mode of inheritance: Autosomal recessive
Phenotypes:

Leading symptoms

Infantile form
(Age of onset: first months of life)

Late-onset form
(Age of onset: variable, from childhood to adulthood)

Diagnostics

Therapy

Alglucosidase alfa (Myozyme®)