Merck Manual

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Other Carbohydrate Metabolism Disorders


Matt Demczko

, MD, Sidney Kimmel Medical College of Thomas Jefferson University

Last full review/revision Apr 2020| Content last modified Apr 2020
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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 Glycolytic 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.

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