A patient with glycogen storage disease type IA combined with hepatic adenoma: A case report  

作　　者：Maohui Yin Lei Chang Ping Jiang Zhiyong Yang Zhonglin Zhang Wanyu Zhang Zhisu Liu 

机构地区：[1]Department of Hepatobiliary and Pancreatic Surgery,Zhongnan Hospital of Wuhan University,Wuhan,Hubei 430062,China [2]Department of Pathology,Zhongnan Hospital of Wuhan University,Wuhan,Hubei 430071,China

出　　处：《Genes & Diseases》2023年第3期701-704,共4页基因与疾病（英文）

基　　金：supported by the National Natural Science Foundation of China(NSFC,No.81702407/H1617);Fundamental Research Funds for the Central Universities of Ministry of Education of China(No.2042017kf0054);the Hubei Chenguang Talented Youth Development Foundation(HBCG),China.

摘　　要：Glycogen storage disease(GSD)is a rare autosomal recessive disease by abnormal accumulation of intracellular glycogen.1 Mutations in genes encoding G-6-P or G-6-Pase lead to dysfunction of the body's glycogen metabolism.Without adequate metabolic treatment,patients with GSD can die during infancy or childhood from severe hypoglycemia and acidosis.The patient's symptoms generally achieve remission during adolescence,except in rare cases when cirrhosis of the liver or myopathy occurs.Once GSD is identified in adults,the patients are often accompanied by many complications,such as fasting hypoglycemia.

关 键 词：PATIENT ADENOMA HEPATIC 

分 类 号：R735.7[医药卫生—肿瘤]