PEPCK 1 deficiency
Overview
PEPCK 1 deficiency: A rare inherited disorder where deficiency of an enzyme (phosphoenolpyruvate carboxykinase-1) prevents fats and proteins being turned into glucose which causes various problems. In type 1, the enzyme deficiency occurs in the liquid part of the cells.
Symptoms
* High blood acid level * Low blood sugar * Reduced muscle tone * Liver enlargement * Failure to thrive
Causes
* Failure to thrive * Liver enlargement * Low blood sugar * Reduced muscle tone