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 extra glycogen in the liver, it is often classified as a glycogen storage disease because it is another defect of glycogen storage and can cause similar problems.

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 the body. GSD 0 has two types: in muscle GSD 0, glycogen formation in the muscles is impaired, and in liver GSD 0, glycogen formation in the liver is impaired.

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 to adulthood, and clinical manifestations result either from a failure to convert glycogen into energy or the toxic accumulation of glycogen.

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、血清转氨酶升高和肝肿大(0型GSD即糖原合成酶缺乏症除外)。患儿常有生长迟滞。

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 has glycogen synthase deficiency the amount of glycogen …

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 hepatic glycogen synthase. With a frequency of less than 1 in 1,000,000 individuals, GSD0 represents only around 1% of all glycogen storage disease cases but it might be underrecognized.

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 levels of alanine and lactate beginning in early infancy. Conversely, feeding results in hyperglycemia and hyperlactatemia.

A number sign (#) is used with this entry because of evidence that liver glycogen storage disease-0 (GSD0A) is caused by homozygous or compound heterozygous mutation in the GYS2 gene (138571), which encodes glycogen synthase-2, on chromosome 12p12.

2023年6月26日 · What is glycogen storage disease? Glycogen storage diseases (GSDs) are a group of rare conditions in which your body can’t use or store glycogen properly. They’re types of inherited (passed from parent to child) metabolic disorders.