2013年1月3日 · The diagnosis of glycogen storage disease type IV (GSD IV) is suspected based on the clinical presentation and the finding of abnormally branched glycogen accumulation in muscle or liver tissue. The diagnosis is confirmed by the demonstration of glycogen branching enzyme (GBE) deficiency in liver, muscle, or skin fibroblasts [ Brown & Brown ...

Glycogen storage disease type IV (GSD IV), or Andersen's Disease, [2][3] is a form of glycogen storage disease, which is caused by an inborn error of metabolism. It is the result of a mutation in the GBE1 gene, which causes a defect in the glycogen branching enzyme.

2012年4月3日 · Andersen disease is also known as glycogen storage disease (GSD) type IV. It is caused by deficient activity of the glycogen-branching enzyme, resulting in accumulation of abnormal glycogen in the liver, muscle, and/or other tissues. In most affected individuals, symptoms and findings become evident in the first months of life.

2025年1月21日 · Mutations in GBE1 lead to the production of abnormally structured glycogen, known as polyglucosan bodies, which is the hallmark of GSD type IV. These polyglucosan bodies accumulate in liver and muscle cells and do not effectively undergo glycogenolysis.

Glycogen storage disease type IV (GSD IV) is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulated glycogen is structurally abnormal and impairs the function of certain organs and tissues, especially the liver and muscles .

Glycogen storage disease type IV (GSD IV) is an ultra-rare autosomal recessive disorder caused by pathogenic variants in GBE1 which results in reduced or deficient glycogen branching enzyme activity. Consequently, glycogen synthesis is impaired and leads to accumulation of poorly branched glycogen k …

安德森氏症（Andersen's Disease），学名肝糖储积症第四型（GSD IV），乃是安德森先生于西元1956年第一次发表这种疾病，他描述︰这是一种由于肝脏储积了异常的肝糖，进而产生的一种家族性遗传的肝硬化疾病；布朗则在1966年证明了这种疾病，是来自于一种肝糖键 ...

糖原贮积症（glycogen storage diseasa,GSD）IV型（也称为安徒生病、支链淀粉病或多糖体病）在1956年被Andersen首次报道 [1]，发病率1/960 000~1/760 000 [2]，是一种罕见的常染色体隐性遗传病，为3p12位点GBE1基因突变导致GBE缺乏，引起异常糖原结构在细胞内积聚导致。 神经肌肉型GSD为其亚型，根据发病年龄分为围产期型、先天性型、幼年型及成人型。 先天性神经肌肉型GSD在新生儿期发病，表现为严重肌张力减低、反射减弱、呼吸抑制和扩张型心肌病，多在 …

2019年8月1日 · GSD IV is inherited in an autosomal recessive manner. Each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Although affected sibs are expected to manifest the same subtype of GSD …

Type IV GSD is a rare autosomal recessive disorder caused by a deficiency of glycogen branching enzyme (GBE) leading to the accumulation of amylopectin-like polysaccharides in affected tissues. The deficient enzyme can be measured in the liver, white blood cells, or cultured fibroblasts and prenatal diagnosis is available.