Enolase deficiency

Beta-enolase deficiency (type XIII, Fig. 42-1) has been identified in a 47-year-old man with late-onset but rapidly progressive exercise intolerance and exercise-triggered myalgia. He did not complain of cramps, never experienced pigmenturia, but had chronically elevated serum CK. The patient was a compound heterozygote for two mutations in the EN03 gene, which is located on chromosome 17 [1],... 

D-7) Enolase deficiency. Associated with a hemolytic anemia. 

Single cases of nitrofnrantoin-indnced (or enhanced) hemolytic anemia have occnrred in patients with deficiencies of other eiythrocyte enzymes (enolase or glutathione peroxidase), as have isolated cases of methemoglobinemia (42). 

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