Erythrocyte Enolase Deficiency

**Semantic type:** Disease or Syndrome

**Definition:** A rare, autosomal dominant, inherited disorder caused by mutation of the ENO1 gene. It is associated with spherocytic hemolytic anemia, exercise-induced myalgia and weakness.

**Synonyms:** - Alpha-Enolase Deficiency - Phosphopyruvate Hydratase Deficiency