Aldehyde dehydrogenase deficiency

A result of a loss-of-function single point mutation, mitochondrial aldehyde dehydrogenase (ALDH2) deficiency is an enzymopathy that impairs ethanol metabolism and affects an estimated 560 million people of East Asian ancestry. Impaired function of ALDH2 results in transient accumulation of acetaldehyde, resulting in the clinical syndrome of facial flushing and other cutaneous and GI discomfort. Because of its acute consequences when drinking ethanol, ALDH2 deficiency is associated with decreased alcohol dependence. ALDH2 deficiency has also been found to be associated with other chronic conditions, including increased risk of cancers in the upper aerodigestive tract.