Manganelli Fiore, Ruggiero Lucia
Department of Neurosciences, Reproductive and Odontostomatological Sciences, University Federico II of Naples, Italy.
Acta Myol. 2013 Oct;32(2):82-4.
Glycogen storage disease type II - also called Pompe disease or acid maltase deficiency - is an autosomal recessive metabolic disorder, caused by an accumulation of glycogen in the lysosome due to deficiency of the lysosomal acid alpha-glucosidase enzyme. Pompe disease is transmitted as an autosomal recessive trait and is caused by mutations in the gene encoding the acid α-glucosidase (GAA), located on chromosome 17q25.2-q25.3. The different disease phenotypes are related to the levels of residual GAA activity in muscles. The clinical spectrum ranging from the classical form with early onset and severe phenotype to not-classical form with later onset and milder phenotype is described.
II型糖原贮积病——也称为庞贝病或酸性麦芽糖酶缺乏症——是一种常染色体隐性代谢紊乱疾病，由于溶酶体酸性α-葡萄糖苷酶缺乏，糖原在溶酶体中蓄积所致。庞贝病作为常染色体隐性性状遗传，由位于17q25.2 - q25.3染色体上的酸性α-葡萄糖苷酶（GAA）编码基因突变引起。不同的疾病表型与肌肉中残余GAA活性水平有关。文中描述了从早发且严重表型的经典形式到晚发且较轻表型的非经典形式的临床谱。
