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Flashcards about Glucose-6-phosphatase Deficiency and Glycogen Storage Diseases
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Which enzyme deficiency causes Von Gierke's disease (Glycogen storage disease type Ia)?
Glucose-6-phosphatase
What is the role of Glucose-6-phosphatase?
It plays a critical role in gluconeogenesis and glycogenolysis by catalyzing the conversion of glucose-6-phosphate to glucose.
What are the principal metabolic effects of glucose-6-phosphatase deficiency?
Hypoglycemia, lactic acidosis, hypertriglyceridemia, and hyperuricemia.
Which metabolic mechanism is affected by glucose-6-phosphatase deficiency?
Glycogenolysis
In which Glycogen storage disease is Debranching enzyme deficient?
Cori Disease
In which Glycogen storage disease is Branching enzyme deficient?
Andersen Disease
In which Glycogen storage disease is Myophosphorylase deficient?
McArdle Disease