Congenital lactase deficiency is an autosomal recessive disorder affecting newborns and characterized by severe, watery diarrhea. The symptoms manifest within the first days of life, soon after the first lactose containing meal. The newborn fails to gain weight due to malabsorption of lactose. The symptoms disappear after introduction of a lactose-free diet.
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- Online Mendelian Inheritance in man Details clinical features and the current state of knowledge of the genetics of congenital lactase deficiency, also known as hereditary alactasia and as disaccharide intolerance II.