Question

What are the physiologic implications of the Pompe disease? (What is abnormal about the physiology of people with this disease?)

Answer 1

Pompe disease is also called Glycogen storage disease type II. It is an autosomal recessive metabolic disorder which damages muscle and nerve cells throughout the body. It is caused by an accumulation of glycogen in the lysosome due to deficiency of the lysosomal acid alpha-glucosidase enzyme.

It is a glycogen storage disease with a defect in lysosomal metabolism.

The accumulated glycogen causes progressive muscle weakness (myopathy) throughout the body and affects various body tissues, particularly in the heart, skeletal muscles, liver and the nervous system.

Clinical features:

-cardiomegaly

-hypotonia

-cardio myopathy

-respiratory distress

-muscle weakness

-feeding difficulties

- failure to thrive