Glycogen storage disease type X

糖原贮积症 X 型

英文解释

Glycogen storage disease type X (GSD-X) is an autosomal recessive disorder of glycogen metabolism. GSD-X is caused by mutations in the PGAM2 gene, which encodes the muscle phosphoglycerate mutase. The typical presentations are exercise intolerance, cramps, and myoglobinuria.

中文解释

型糖原贮积病 (GSD-X) 是糖原代谢的常染色体隐性遗传病。 GSD-X 是由 PGAM2 基因突变引起的，该基因编码肌肉磷酸甘油酸变位酶。典型的表现是运动不耐受、痉挛和肌红蛋白尿。

参考文献

[1]. Tsujino, S et al.The molecular genetic basis of muscle phosphoglycerate mutase (PGAM) deficiency.