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Home > West Medicine > Pediatrics > Pediatric Internal Med

Classroom classification

百科

Glycogen storage disease type II (Pompe) in children

儿科综合

Common symptoms

巨舌、呼吸衰竭、呼吸困难、食欲不振、腱反射消失、肌张力减低、烦躁不安、生长缓慢

The pathology of disease

Glycogen storage disease type II (Pompe) in children is acid alpha-glucosidase deficiency; infantile hypertrophic cardiomyopathy; hypotonia; children; enzyme replacement; pediatric metabolic/cardiology.

Symptoms

Hypertrophic cardiomyopathy; hypotonia; infant; known; ERT; metabolic

Causes

GAA mutation; AR; Pompe disease; GSD II; child.

Treatment

Enzyme replacement (alglucosidase alfa); cardiac/respiratory support; pediatric metabolic/cardiology; early treatment

Dept

Pediatrics / metabolic / pediatric cardiology / pediatric neurology / medical genetics.

Warm reminder: Health education reference only; seek care at regular hospital.

Family room

儿科综合Overview of the Western Medical Room