Enolase deficiency

Enolase deficiency
Synonyms	Glycolytic enzymopathy
Pronounce	N/A
Specialty	N/A
Symptoms	Muscle weakness, Exercise intolerance, Cramps, Myalgia
Complications	N/A
Onset	Childhood or Adolescence
Duration	Chronic
Types	N/A
Causes	Genetic mutation in the ENO3 gene
Risks	Family history of the condition
Diagnosis	Genetic testing, Muscle biopsy, Enzyme assay
Differential diagnosis	Other glycolytic enzymopathies, Muscular dystrophy
Prevention	N/A
Treatment	Supportive care, Physical therapy, Avoidance of strenuous exercise
Medication	N/A
Prognosis	Variable, depending on severity
Frequency	Rare
Deaths	N/A

- Enolase Deficiency is a rare genetic disorder of glucose metabolism. Partial deficiencies have been observed in several caucasian families. The deficiency is transmitted through an autosomal dominant inheritance pattern. The for Enolase 1 has been localized to Chromosome 1 in humans. Enolase deficiency, like other glycolytic enzyme deficiences, usually manifests in red blood cells as they rely entirely on anaerobic glycolysis. Enolase deficiency is associated with a spherocytic phenotype and can result in hemolytic anemia, which is responsible for the clinical signs of Enolase deficiency. [[Category:Uncategorized

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