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单词 Acid Maltase Deficiency
释义

Acid Maltase Deficiency

中文百科

庞贝氏症 Glycogen storage disease type II

(重定向自Acid Maltase Deficiency)

庞贝氏症英语:Pompe disease),又称为酸性麦芽糖酵素缺乏症(acid maltase deficiency,AMD)或肝糖储积症第二型(glycogen storage disorder,GSD;glycogenosis II),是一种罕见疾病,成因为第17对染色体出现病变,导致体内缺乏酸性α-葡萄糖苷酶这种酵素,而无法分解肝糖,会导致肌肉无力,心脏扩大等病因,可分成婴儿型及晚发型两种,刚出生的婴儿若得此病症,通常活不过1~2岁。庞贝氏症是经由双亲遗传给小孩的,而且是一种自体隐性遗传 。庞贝氏症为既是一种代谢性肌肉疾病(metabolic muscle disease)也属于溶小体储积症(lysosomal storage disease, LSD) 。

英语百科

Glycogen storage disease type II 庞贝氏症

(重定向自Acid Maltase Deficiency)
Muscle biopsy showing large vacuoles in a case of Pompe disease (HE stain, frozen section).
Glycogen storage disease type II has an autosomal recessive pattern of inheritance.

Glycogen storage disease type II (also called Pompe disease /ˈpɒmpə/ or acid maltase deficiency) is an autosomal recessive metabolic disorder which damages muscle and nerve cells throughout the body. It is caused by an accumulation of glycogen in the lysosome due to deficiency of the lysosomal acid alpha-glucosidase enzyme. It is the only glycogen storage disease with a defect in lysosomal metabolism, and the first glycogen storage disease to be identified, in 1932 by the Dutch pathologist J. C. Pompe.

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更新时间:2025/6/17 0:23:27