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| Enolase deficiency ： ウィキペディア英語版 |
Enolase deficiency
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 gene 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.
== Causes ==
Genetics is found to be the cause of enolase deficiency. The individual in the first known case of this deficiency was heterozygous for the gene for β-enolase, and carried two missense mutations, one inherited from each parent. His muscle cells synthesized two forms of β-enolase, each carrying a different mutation. These mutations changed glycine at position 374 to glutamate (G374E) and glycine at position 156 to aspartate (G156D). 〔 Comi, G., Fortunato, F., Lucchiari, S., Bordoni, A., Prelle, A., Jann, S., & ... Bresolin, N. (n.d). beta-enolase deficiency, a new metabolic myopathy of distal glycolysis. Annals Of Neurology, 50(2), 202-207.〕
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