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Other Carbohydrate Metabolism Disorders

By Lee M. Sanders, MD, MPH, Associate Professor of Pediatrics, Stanford University

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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.