Fatal Case of Pyruvate Dehydrogenase Deficiency

Publisher Website
Google Scholar
Abstract
A Japanese neonate with fatal pyruvate dehydrogenase deficiency is described. The patient lapsed into a coma shortly after birth with severe metabolic acidosis caused by accumulation of lactate and pyruvate. Hyperammonemia was also present and found to be the cause of the coma. Despite intensive treatment, the patient died at 93 hours of age. Enzyme study showed that the activity of pyruvate dehydrogenase was not detected in either the liver or the kidneys. This is the third reported case of fatal pyruvate dehydrogenase deficiency and hyperammonemia is described for the first time in this condition.