What is a pei blood test?
Phosphoenolpyruvate carboxykinase (PEPCK) is an enzyme that catalyzes the conversion of oxaloacetate to phosphoenolpyruvate (PEP). This reaction is a key step in gluconeogenesis, the process by which glucose is synthesized from non-carbohydrate precursors.
A PEPCK blood test measures the level of PEPCK activity in the blood. This test can be used to diagnose and monitor inherited disorders that affect PEPCK activity.
Inherited PEPCK disorders are rare but can cause a range of symptoms, including:
* Hypoglycemia (low blood sugar)
* Ketosis (a condition in which the body produces high levels of ketones, a type of acid)
* Enlarged liver
* Kidney stones
* Developmental delay
* Intellectual disability
A PEPCK blood test is typically performed in children who experience unexplained hypoglycemia or other symptoms of a PEPCK disorder. The test is also sometimes performed in adults with suspected liver or kidney disease.
The PEPCK blood test is a simple blood test that can be performed in a doctor's office or clinic. Results of a PEPCK blood test are usually available within a few days.
Treatment for PEPCK disorders depends on the specific disorder and its symptoms. Treatment may include dietary changes, medication, and lifestyle changes.
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