Pyruvate dehydrogenase E1-alpha deficiency is the most frequent form of pyruvate dehydrogenase deficiency (PDHD). The signs and symptoms usually first appear shortly after birth and include; lactic acidosis, psychomotor retardation, hypotonia, seizure, ataxia and other signs of neurological dysfunction. The exact prevalence is unknown, however more than 200 patients have been described. It was noted that male patients are more severely affected the female patients.Some patients have structural brain lesions. Dignosis can be made by measuring the level of lactic acid and pyrovate in on to perform enzyme assay and molecular genetic testing. Clinically, check for signs of central nervous system dysfunctions. Treatments include cofactor supplementation with thiamine, carnitine, and lipoic acid in order to optimize the function of pyruvate dehydrogenase complex. The correction of lactic acidosis does not restore the damaged CNS.