Glycogen Storage Disease Ia (GSD1A)

Glycogen Storage Disease Ia(来自ICD-11)

别称:

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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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Glycogen Storage Disease Ia, also known as glycogen storage disease type i, is related to fanconi-bickel syndrome and glycogen storage disease v, and has symptoms including intermittent diarrhea An important gene associated with Glycogen Storage Disease Ia is G6PC1 (Glucose-6-Phosphatase Catalytic Subunit 1), and among its related pathways/superpathways are Metabolism and Activation of cAMP-Dependent PKA. The drugs Prednisolone and Prednisolone acetate have been mentioned in the context of this disorder. Affiliated tissues include liver and kidney, and related phenotypes are hepatomegaly and hyperlipidemia

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