Not Found

Find information on medical topics, symptoms, drugs, procedures, news and more, written for the health care professional.

* This is the Professional Version. *

Other Carbohydrate Metabolism Disorders

By Lee M. Sanders, MD, MPH

Click here for
Patient Education

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.

Other deficiencies include those of glycolytic enzymes or enzymes in the pentose phosphate pathway. Common examples are pyruvate kinase deficiency (see Embden-Meyerhof Pathway Defects) and glucose-6-phosphate dehydrogenase (G6PD) deficiency, both of which may result in hemolytic anemia. Wernicke-Korsakoff syndrome is caused by a partial deficiency of transketolase, which is an enzyme for the pentose phosphate pathway that requires thiamin as a cofactor.

* This is the Professional Version. *