Inherited deficiency of pyruvate

Inherited deficiency of pyruvate kinase impairs glycolysis in all cells but has the most acute effect on RBCs. 

Thiamine deficiency causes decreased pyruvate oxidation, leading to accumulation of pyruvate and lactate, particularly in the blood and brain, and is accompanied by impairment of the cardiovascular, nervous, and gastrointestinal systems (Chapter 38). Inherited deficiency of pyruvate dehydrogenase complex is accompanied by lactic acidemia and abnormalities of the nervous system (e.g., ataxia and psychomotor retardation). Pyruvate carboxylase deficiency causes similar abnormalities (Chapter 15). Both inherited disorders of pyruvate utilization are autosomal recessive. 

P)rruvate kinase catalyses the formation of pyruvate from phosphoenolpyruvate in the glycolysis pathway, with the production of two molecules of ATP. People with a relatively common inherited deficiency of pyruvate kinase demonstrate haemolytic anaemia due to the inadequate production of ATP by glycolysis to meet the erythrocytes energy needs. Since the cell has no other method of producing ATP, it is unable to maintain the structural integrity of its cell membrane. This leads to changes in the shape of the red blood cell and hence its destruction by phagocytosis. 

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