Other Carbohydrate Metabolism Disorders By Matt Demczko, MD, Mitochondrial Medicine, Children's Hospital of Philadelphia Reviewed / Revised Oct 2021 | Modified Sep 2022 View Patient Education More Information Phosphoenolpyruvate carboxykinase deficiency impairs gluconeogenesis and results in symptoms and signs similar to the hepatic forms of glycogen storage disease but without hepatic glycogen accumulation.