See also approach in a patient with suspected congenital metabolic disorder
See carbohydrate metabolism disorders at a glance. See also Table glycogen storage diseases and disorders of gluconeogenesis. See also approach in a patient with suspected congenital metabolic disorder A phosphoenolpyruvate deficiency impairs gluconeogenesis and leads to symptoms and signs that are similar to those of hepatic forms of Glykogenspeicherstörungen but without hepatic accumulation of glycogen. Other enzyme deficiency diseases include glycolytic enzymes and enzymes of the pentose phosphate pathway. Frequently used examples are the pyruvate kinase deficiency (disorders of the Embden-Meyerhof-cycle) and glucose-6-phosphate dehydrogenase deficiency (G6PD); both can lead to hemolytic anemia. The Wernicke-Korsakoff syndrome is caused by a partial deficiency of transketolase, an enzyme in the pentose phosphate cycle that requires as a cofactor thiamine.