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中文Glycogen Storage Disease Ia (GSD1A)
Alias:
Glycogen Storage Disease Type I
Von Gierke Disease
Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency Type Ia
Glycogen Storage Disease I
Hepatorenal Form of Glycogen Storage Disease
Hepatorenal Glycogenosis
Glycogenosis Due to Glucose-6-Phosphatase Deficiency Type 1a
Glycogenosis Due to Glucose-6-Phosphatase Deficiency Type Ia
Glycogen Storage Disease Due to G6p Deficiency Type Ia
Glucose-6-Phosphate Transport Defect
Gsd Due to G6p Deficiency Type 1a
Gsd Due to G6p Deficiency Type Ia
Glucose-6-Phosphatase Deficiency
Glycogen Storage Disease Type 1a
Glycogen Storage Disease, Type I
G6p Deficiency Type 1a
Von Gierke's Disease
Glycogenosis Type Ia
Gsd Type 1a
Gsd1a
Gsdia
Deficiency of Glucose-6-Phosphatase
Storage Disease, Glycogen, Type 1a
Glycogen Storage Disease Type Ia
Glucose-6-Phosphate Deficiency
Glycogen Storage Disease 1a
Glycogen Storage Disease 1
Glycogenosis Type I
Gsd Type I
Gsd Ia
Gsd-Ia
Gsd I
Gsd1
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糖原贮积病Ia，也称为糖原贮积病I型，与范可尼-毕克综合症和糖原贮积病V有关，症状包括间歇性腹泻。与糖原贮积病Ia有关的重要基因是G6PC1（葡萄糖-6-磷酸酶催化亚基1），其相关通路/超级通路包括代谢和激活cAMP依赖性PKA。在该疾病的背景下提到了泼尼松和泼尼松醋酸酯。附属组织包括肝脏和肾脏，相关表型为肝大和高脂血症。
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MALACARDS
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