Pompe’s disease is one of a class of lysosomal storage diseases in which one or
ID: 12942 • Letter: P
Question
Pompe’s disease is one of a class of lysosomal storage diseases in which one or more enzymes that are normally found in the lysosomes are defective or absent. In Pompe’s disease, the enzyme that normally breaks down glycogen is absent.Describe what you would see in an electron micrograph of a liver cell from an individual with Pompe’s disease. What are some possible consequences of having such a disease? Can you think of an effective way to treat it?
#1. Indicate what is the structure or the cell component referred to in your case study? Be as specific as possible.
#2. Where is it located in the cell?
#3. Is it found in plants/animals/bacterial cells?
#4. What is its normal function in the cell?
Explanation / Answer
An electron micrograph would show large lysosomes, engorged with undigested glycogen. Eventually, the large lysosomes would disrupt other functions of the cell. In a person with Pompes disease, this leads to muscle weakness and an enlarged heart. Cardiac and skeletal muscle cells are most greatly affected a biopsy of the liver of an alcoholic.