AMPD1 is a gene that provides instructions for making an enzyme called adenosine monophosphate deaminase 1. This enzyme plays a crucial role in the breakdown of adenosine monophosphate (AMP), a molecule involved in energy metabolism within cells. Proper functioning of AMPD1 is essential for maintaining energy levels, especially in muscle tissues. Mutations in the AMPD1 gene can lead to a condition known as AMPD deficiency, which can cause muscle weakness and cramping during exercise. Individuals with this deficiency may experience symptoms like fatigue and reduced exercise tolerance, particularly during high-intensity activities.