Question

What is the molecular basis of the Pompe disease? (What is abnormal at the cellular, biochemical, or molecular level?)

Answer 1

Answer

Molecular basis of the Pompe disease

• Pompe disease is very rare and it is a genetically inherited autosomal recessive disorder.
• There is mutation in gene GAA.
• This mutation causes deficiency of acid α-glucosidase. α-glucosidase is a lysozymal enzyme that cleaves α1-4 and α1-6 glucose to make glycogen.
• Deficiency of this enzymes leads to impairment in glycogen storage in skeletal muscle, heart muscle and liver.
• Insufficient glycogen causes may symptoms such as muscle weakness, poor muscle tone, breathing difficulties, liver enlargement.