Muscle Phosphoglycerate Mutase Deficiency

PGYM deficiency, or phosphoglycerate mutase deficiency, is a very rare inherited metabolic disorder in which the muscle does not properly process its energy reserves, making it difficult to sustain intense physical exertion.

Common symptoms: muscle pain and cramps with exercise, early fatigue and, at times, discomfort that appears mainly during vigorous activity.

Common causes: it is caused by a genetic alteration that affects a muscle enzyme responsible for energy production and is present from birth.

Which specialist treats it? The pediatrician can guide the initial workup and coordinate with specialists in neuromuscular and metabolic diseases. When exercise consistently triggers muscle cramps and pain, the recommended step is to seek a specialized evaluation.