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.
See Overview of Carbohydrate Metabolism Disorders. See also table Glycogen Storage Diseases and Disorders of Gluconeogenesis.
See also Approach to the Patient With a Suspected Inherited Disorder of Metabolism.
Додаткова інформація
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Online Mendelian Inheritance in Man (OMIM) database: Complete gene, molecular, and chromosomal location information
