← all disease traces
Glycogen storage disease type Ia (von Gierke)
G6PCOMIM 232200do(g6pase_activity ↓)
loss of glucose-6-phosphatase -> impaired hepatic glucose output; G6P shunted to lactate.
plasma glucose concentration ↓HPO: HypoglycemiaHP:0001943
comparative-statics (steady-state) net: ?
hepatic glucose-6-phosphatase activity (G6PC) ↓ →(+) plasma glucose concentration ↓
hepatic glucose-6-phosphatase activity (G6PC) ↓ →(+) hepatic gluconeogenesis rate (lactate/glycerol/amino acids -> glucose-6-phosphate) ↓ ↠(production +) plasma glucose concentration ↓
hepatic glucose-6-phosphatase activity (G6PC) ↓ →(+) hepatic glycogenolysis rate (glycogen -> glucose-6-phosphate) ↓ ↠(production +) plasma glucose concentration ↓
hepatic glucose-6-phosphatase activity (G6PC) ↓ →(+) hepatic gluconeogenesis rate (lactate/glycerol/amino acids -> glucose-6-phosphate) ↓ →(+) hepatic glucose production (glycogenolysis + gluconeogenesis) ↓ →(+) plasma glucose concentration ↓
hepatic glucose-6-phosphatase activity (G6PC) ↓ →(+) hepatic glycogenolysis rate (glycogen -> glucose-6-phosphate) ↓ →(+) hepatic glucose production (glycogenolysis + gluconeogenesis) ↓ →(+) plasma glucose concentration ↓
plasma lactate concentration ↑HPO: Lactic acidosisHP:0003128
comparative-statics (steady-state) net: ↑
hepatic glucose-6-phosphatase activity (G6PC) ↓ →(-) plasma lactate concentration ↑
↑ increased ↓ decreased ? magnitude-dependent (SCC). →(+) positive edge, →(−) negative, ▷ cross-scale constitutive lift. Endophenotypes are real HPO directional terms. Draft for domain review.