Phosphoglycerate Mutase Deficiency

**Semantic type:** Disease or Syndrome

**Definition:** A rare, autosomal recessive, inherited disorder caused by mutation of the PGAM2 gene. It is characterized by non-spherocytic hemolytic anemia, exercise-induced cramping, myoglobinuria, and presence of tubular aggregates on muscle biopsy.

**Synonyms:** - Glycogen Storage Disease X - Muscle Phosphoglycerate Mutase Deficiency