Hypolactasia and lactase persistence. Historical review and the terminology

Abstract

Lactase (more precisely lactase-phlorizin hydrolase) is located in the brush border of the small intestinal enterocytes and is responsible for the hydrolysis of dietary lactose. The earliest studies on lactase activity in mammals were published around the turn of the century. In 1903, it was found that the dog had a very low lactase activity and therefore lactose remained unhydrolysed, causing diarrhoea. Human hypolactasia was demonstrated in 1963, and it was soon found that it is very common, commoner than lactase persistence in most parts of the world. In 1973, adult-type hypolactasia was shown to be inherited by an autosomal recessive single gene. This article reviews the early expansion of the knowledge on lactase and hypolactasia as well as the correct terminology.