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.
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