Details of Disease

General Information of Disease (ID: DISY4Q9T)

• Disease Name: Glycogen storage disease I
• Synonyms: von Gierke's disease; von Gierke disease; hepatorenal glycogenosis; glycogenosis type I; glycogenosis type 1; glycogen storage disease, type I; glycogen storage disease type I; glycogen storage disease type 1; glycogen storage disease due to glucose-6-phosphatase deficiency; glycogen storage disease due to G6P deficiency; glycogen storage disease I; deficiency of glucose-6-phosphatase; Glycogen Storage Disease Type I; GSD1; GSD type I; GSD type 1; GSD due to G6P deficiency; G6P deficiency
• Definition: Glycogenosis due to glucose-6-phosphatase (G6P) deficiency or glycogen storage disease, (GSD), type 1, is a group of inherited metabolic diseases, including types a and b, and characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver.
• Disease Hierarchy:
  DISYGNOB: Disorder of glycogen metabolism
  DISY4Q9T: Glycogen storage disease I
• Disease Identifiers:
  MONDO ID: MONDO_0002413
  MESH ID: D005953
  UMLS CUI: C0017920
  MedGen ID: 6640
  Orphanet ID: 364
  SNOMED CT ID: 124437004

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
APOA4	TTNC3WS	Strong	Biomarker	[1]
SLC37A4	TT1KPBZ	Strong	Genetic Variation	[2]
G6PC	TTBQMJ8	Definitive	Altered Expression	[3]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
G6PC3	DEE1B8O	Strong	Biomarker	[4]

This Disease Is Related to 5 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
BTD	OTJYTQ69	Strong	Altered Expression	[5]
GYPE	OTBHAG6A	Strong	Genetic Variation	[6]
MLXIPL	OTR9MLLW	Strong	Biomarker	[7]
PHKA2	OTJE1KXL	Strong	Biomarker	[8]
PYGL	OTS1YFGR	Strong	Genetic Variation	[5]

References

• [1] Increased cellular cholesterol efflux in glycogen storage disease type Ia mice: a potential mechanism that protects against premature atherosclerosis.FEBS Lett. 2005 Aug 29;579(21):4713-8. doi: 10.1016/j.febslet.2005.07.042.
• [2] Insulin-resistance in glycogen storage disease type Ia: linking carbohydrates and mitochondria?.J Inherit Metab Dis. 2018 Nov;41(6):985-995. doi: 10.1007/s10545-018-0149-4. Epub 2018 Feb 12.
• [3] Activation of tumor-promoting pathways implicated in hepatocellular adenoma/carcinoma, a long-term complication of glycogen storage disease type Ia.Biochem Biophys Res Commun. 2020 Jan 29;522(1):1-7. doi: 10.1016/j.bbrc.2019.11.061. Epub 2019 Nov 15.
• [4] Glycogen storage disease type I and G6Pase- deficiency: etiology and therapy.Nat Rev Endocrinol. 2010 Dec;6(12):676-88. doi: 10.1038/nrendo.2010.189. Epub 2010 Oct 26.
• [5] Elevated serum biotinidase activity in hepatic glycogen storage disorders--a convenient biomarker.J Inherit Metab Dis. 2007 Nov;30(6):896-902. doi: 10.1007/s10545-007-0734-4. Epub 2007 Nov 12.
• [6] Long-term safety and efficacy of AAV gene therapy in the canine model of glycogen storage disease type Ia.J Inherit Metab Dis. 2018 Nov;41(6):977-984. doi: 10.1007/s10545-018-0199-7. Epub 2018 May 25.
• [7] Carbohydrate-response-element-binding protein (ChREBP) and not the liver X receptor (LXR) mediates elevated hepatic lipogenic gene expression in a mouse model of glycogen storage disease type 1.Biochem J. 2010 Dec 1;432(2):249-54. doi: 10.1042/BJ20101225.
• [8] Complete genomic structure and mutational spectrum of PHKA2 in patients with x-linked liver glycogenosis type I and II. Am J Hum Genet. 1999 Jun;64(6):1541-9. doi: 10.1086/302399.