What are the genetic changes related to adenosine monophosphate deaminase deficiency ?
Mutations in the AMPD1 gene cause AMP deaminase deficiency. The AMPD1 gene provides instructions for producing an enzyme called AMP deaminase. This enzyme is found in skeletal muscle, where it plays a role in producing energy within muscle cells. Mutations in the AMPD1 gene disrupt the function of AMP deaminase and impair the muscle cells' ability to produce energy. This lack of energy can lead to myalgia or other muscle problems associated with AMP deaminase deficiency.  The three types of AMP deaminase deficiency are known as the inherited type, acquired type, and coincidental inherited type.  Individuals with the inherited type have a mutation in both copies of the AMPD1 gene in each cell. Most people are asymptomatic, meaning they have no symptoms. Some people with AMP deaminase deficiency experience muscle weakness or pain following exercise.  The acquired type occurs in people who have decreased levels of AMP deaminase due to the presence of a muscle or joint condition.  People with the coincidental inherited type have a mutation in both copies of the AMPD1 gene. Additionally, they have a separate joint or muscle disorder. Some individuals experience more severe joint or muscle symptoms related to their disorder if they have AMP deaminase deficiency than do people without this enzyme deficiency. Most, however, do not have any symptoms associated with AMP deaminase deficiency.  It is not known why most people with this condition do not experience symptoms. Researchers speculate that additional mutations in other genes may be involved.