Final answer:
Diagnostic tests for Von Gierke's disease include blood tests for glucose, lactate, uric acid, and lipids, liver biopsy to assess glucose-6-phosphatase activity, and genetic testing to identify mutations in the G6PC gene.
Step-by-step explanation:
Diagnostic Tests for Von Gierke's Disease
Von Gierke's disease, also known as glycogen storage disease type I, is characterized by a deficiency in glucose-6-phosphatase, which is essential for glycogenolysis. This deficiency leads to the accumulation of glycogen in the liver and kidneys, causing various symptoms such as hypoglycemia, lactic acidosis, hyperuricemia, and hyperlipidemia. The diagnostic tests for Von Gierke's disease include the following:
Blood tests to measure levels of glucose, lactate, uric acid, and lipids.
Determination of glucose-6-phosphatase activity in liver tissue through a biopsy.
Genetic testing to identify mutations in the G6PC gene, which provides instructions for making the glucose-6-phosphatase enzyme.
Other investigations may also include assessing the levels of liver enzymes such as gamma-glutamyl transpeptidase to evaluate liver function and testing for associated conditions such as hyperuricemia. Additionally, lactate dehydrogenase levels might be considered to evaluate tissue destruction.