Adenylate Deaminase Deficiency
Adenylate Deaminase Deficiency is a rare genetic disorder that affects the body's ability to break down adenosine triphosphate (ATP), a crucial energy molecule. This condition is caused by mutations in the AMPD1 gene, which leads to a deficiency of the enzyme adenylate deaminase. As a result, individuals may experience muscle weakness, cramps, and fatigue, especially during exercise.
The deficiency can lead to an accumulation of adenosine monophosphate (AMP) and a decrease in ATP levels, impacting muscle function. Diagnosis typically involves blood tests and genetic testing. Management focuses on lifestyle modifications, such as avoiding intense physical activity, to reduce symptoms and improve quality of life.