Pyruvate Dehydrogenase E1-Alpha Deficiency (PDHA1)

Pyruvate dehydrogenase E1-alpha deficiency is a pan-ethnic disorder caused by pathogenic variants in the gene PDHA1. It is inherited in an X-linked dominant manner and both males and females are affected, although males may be more severely affected than females. Clinical features usually include neonatal lactic acidosis and hypotonia. Some patients have seizures, brainstem dysfunction, and/or facial dysmorphism. Many male patients die in infancy or early childhood, although some may survive to adolescence. Female patients generally have a longer period of survival. Currently, it is not possible to predict the severity of disease from the patients genotype.

For information about carrier frequency and residual risk, please see the residual risk table.