"Glycogen storage disease type I (GSD-I), also known as von Gierke disease, is a type of glycogen storage disease where there is excess deposition of glycogen primarily in the liver, but also in the kidney and small bowel."
"GSD-I is an autosomal recessive metabolic disorder. The majority of GSD-I cases are caused by a lack of the enzyme glucose-6-phosphatase. This results in failure of the final step of gluconeogenesis and glycogenolysis (i.e. hydrolysis of glucose-6-phosphate to glucose and phosphate) 2."
"GSD-I is an autosomal recessive metabolic disorder. The majority of GSD-I cases are caused by a lack of the enzyme glucose-6-phosphatase. This results in failure of the final step of gluconeogenesis and glycogenolysis (i.e. hydrolysis of glucose-6-phosphate to glucose and phosphate) 2."
Expected headings
"Medical treatment"
"Surgical treatment"
"Complications"
"fasting hypoglycaemia (e.g. presenting as seizures)"
"acidosis and ketosis (e.g. presenting as hyperventilation and vomiting)"
"bleeding diatheses (e.g. presenting as epistaxis)"