Glycogen storage disease type 0 is a disease characterized by a deficiency in the glycogen synthase enzyme (GSY). Although glycogen synthase deficiency does not result in storage of …

Glycogen storage disease type 0 (also known as GSD 0) is a condition caused by the body's inability to form a complex sugar called glycogen, which is a major source of stored energy in …

2025年1月21日 · Glycogen storage diseases (GSDs) are inherited inborn errors of carbohydrate metabolism that result in abnormal glycogen storage. The onset can range from neonatal life …

2023年9月7日 · Glycogen storage diseases (GSDs) are a group of disorders characterized by a biochemical deficit in glycogenesis (glycogen synthesis), glycogenolysis (breakdown of...

糖原代谢障碍 — 糖原累积病(glycogen storage disorder, GSD)是一大类异质性疾病，由调节肝糖原和肌糖原分解及合成的酶缺陷所致。GSD表现为不同程度的低血糖、酮症、血清转氨酶升高和 …

Type 0 Glycogen Storage Disease (GSD 0) is caused by a deficiency in the enzyme named glycogen synthase. This enzyme is needed for the body to make glycogen. When a person …

2020年8月11日 · Glycogen storage disease type 0 (GSD0) is an autosomal recessive disorder caused by a sequence variant in the GYS2 gene, leading to decreased or absent activity of …

肝糖原贮积病0型，又称肝糖原合成酶缺乏性低血糖症，是由于肝糖原合成酶缺乏引起的糖原贮积病和肝糖原贮积病。 与肝糖原贮积病0型相关的基因是GYS2（糖原合成酶2）。

Inborn error of metabolism of glucose caused by decreased glycogen synthetase activity and characterized by fasting hypoglycemia, high blood ketones, increased free fatty acids, and low …

There are two types of Glycogen Storage Disease 0; Muscle GSD 0 and Liver GSD 0. Muscle GSD 0 is where glycogen formation in the muscles is impaired and Liver GSD 0 is where …