Adenylate Kinase Deficiency is a rare genetic disorder caused by mutations in the AK1 gene, which is responsible for producing the enzyme adenylate kinase. This enzyme plays a crucial role in energy metabolism by converting adenosine diphosphate (ADP) into adenosine triphosphate (ATP), the primary energy carrier in cells. A deficiency can lead to reduced energy levels in tissues, particularly affecting muscles and the brain. Symptoms of this condition can vary but often include muscle weakness, exercise intolerance, and episodes of pain or cramping during physical activity. In severe cases, it may lead to more serious complications, such as myopathy or cardiomyopathy. Diagnosis typically involves genetic testing and enzyme activity assays.