Pompe Disease

Pompe Disease

Pompe disease is a rare genetic genetic disorder caused by a deficiency or dysfunction of an enzyme in the lysosome of certain cells. This enzyme defect results in symptoms such as profound muscle weakness and an enlarged heart.

Pompe Disease Overview, Symptoms, Diagnosis

Disease Overview

Pompe disease is also known as acid maltase deficiency (AMD) or glycogen storage disease type II (GSD-II). It is a progressive disease which affects many organ systems. Pompe disease is often life-threatening.
The disease is caused by the absence or deficiency of a lysosomal enzyme (acid alpha-glucoside or GAA), resulting in accumulation of glycogen in cells in the muscles and heart.

Major Signs and Symptoms

In infants:

Muscle weakness (\"floppy\" baby)
Enlarged heart / heart disease
Inability to roll over, sit or crawl
Frequent respiratory infections
Respiratory insufficiency
Cardiorespiratory failure
Feeding difficulties and/or failure to thrive

In early childhood through adulthood:

Trunk and lower limb muscle weakness
Gait abnormalities (problems walking)
Respiratory failure/ insufficiency
Difficulty in breathing when lying down
Delayed motor milestones (children)
Feeding and swallowing difficulties

Diagnosis

Diagnosis can be confirmed by a test which measures the enzyme activity in blood. In infants, a chest x-ray showing the presence of an enlarged heart often provides the first indication of pompe disease.

For more information on how to be tested for Pompe disease or for information on genetic counselling please contact:

Division of Human Genetics
National Health Laboratory Service
+27 11 489 9223/4

Division of Human Genetics
University of Cape Town
+27 21 406 6304