Aug 8, 2023 · Glycogen storage disease type I (GSD I), also known as Von Gierke disease, is an inherited disorder caused by deficiencies of specific enzymes in the glycogen metabolism pathway. It was first described by Von Gierke in 1929 who reported excessive hepatic and renal glycogen in the autopsy reports of 2 children.

糖原累积病 (glycogen storage disease，GSD)是糖原代谢过程中各种酶缺陷导致的一组先天性遗传代谢性疾病，以糖原在全身各器官组织中过度沉积为特征，主要累及肝脏或（和）肌肉，是一类较常见的代谢性疾病，发病率1：20 000～43 000。

Glycogen storage disease type I (GSD I) is an inherited disease that prevents the liver from properly breaking down stored glycogen, which is necessary to maintain adequate blood sugar levels. GSD I is divided into two main types, GSD Ia and GSD Ib, which differ in cause, presentation, and treatment.

Feb 17, 2023 · 此疾病大致共分為11 種類型，其中第 1 型可分為 A、B 兩種亞型，1A 型又稱為馮吉爾克病 (von Gierke's disease)， 發生佔第 1 型的 80%，以下針對此類型疾病簡介。 病因： 人體 第 17 號染色體長臂 21 區域位置 的基因稱為 G6PC，此蛋白質產物為葡萄糖-6-磷酸酶(glucose-6-phosphatase)，主要分布於肝臟與腎臟。 當此基因缺陷導致此酵素缺乏時，肝醣代謝為葡萄糖的最後一個步驟——葡萄糖-6-磷酸轉為葡萄糖——則無法順利進行，造成 大量肝醣積存於體內器 …

Sep 27, 2022 · 糖原累积病Ia型（glycogen storage disease type Ia， GSDIa）是一种可治疗的罕见病，为常染色体隐性遗传病。 由于G6PC基因变异导致葡萄糖-6-磷酸酶活性不足，糖原在肝脏、肾脏和小肠中过度累积，患者常有空腹低血糖、肝肿大、矮小及肾脏病变等多系统损害。

Apr 19, 2006 · Glycogen storage disease type I (GSD I) is characterized by accumulation of glycogen and fat in the liver and kidneys resulting in hepatomegaly and nephromegaly. Severely affected infants present in the neonatal period with severe hypoglycemia due to …

GSD是糖类代谢异常的遗传性疾病，以Ⅰa型最常见，主要源于葡萄糖-6-磷酸酶催化亚单位（glucose-6-phosphatase catalytic subunit,G6PC）基因突变导致的葡萄糖-6-磷酸酶活性异常，患者多婴儿期起病，主要表现为肝大、空腹低血糖、身材矮小、娃娃脸、反复鼻衄、高乳酸血 ...

Glycogen storage disease type I (also known as GSDI or von Gierke disease) is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain organs and tissues, especially the liver, kidneys, and small intestines, impairs their ability to function normally.

Glycogen storage disease type Ia (GSD Ia) is caused by mutations in the G6PC gene encoding the phosphatase of the microsomal glucose-6-phosphatase system. GSD Ia is characterized by hepatomegaly, hypoglycemia, lactic acidemia, hyperuricemia, hyperlipidemia and short stature.

Glycogen storage disease type Ia (GSDIa) is caused by defective glucose-6-phosphatase, a key enzyme in carbohydrate metabolism. Affected individuals cannot release glucose during fasting and accumulate excess glycogen and fat in the liver and kidney, putting them at risk of severe hypoglycaemia and secondary metabolic perturbations.