Pompe Disease - Introduction

Pompe disease is described as a progressive sickness because it gets worse over time. The progressive nature of Pompe disease is a result of its fundamental cause: the continuing buildup of a substance called glycogen inside muscle cells. As overload glycogen continues to build up, it interferes with normal cell function and causes continuous damage to cells, ensuing in deterioration muscle weakness that can affect movement, breathing, and, in infants, heart function.

Pompe Disease is a neuromuscular, autosomal recessive metabolic disorder in the family of lysosomal storage diseases caused by a deficiency in the enzyme Acid alpha-glucosidase , which is needed to break down glycogen—a long, branched glucose polymer and stored form of sugar used for energy. It is the only glycogen storage disease with a defect in lysosomal metabolism and was the first glycogen storage disease to be identified, in 1932.

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

The disease is named after Johann Pompe, who characterized it in 1932.[1][2]
Despite Pompe's initial observations, the metabolic basis for the disease remained a puzzle until Christian de Duve's discovery of lysosomes in 1955, leading his co-worker Henri G. Hers to establish the principle of lysosomal storage diseases, in 1965.