congenital lactase deficiency
MIM.223000
Congenital lactase deficiency (CLD)
Congenital lactase deficiency (CLD) is a severe gastrointestinal disorder characterized by watery diarrhea in infants fed with breast milk or other lactose-containing formulas.
Etiology
Locus at 2q21
Differential diagnosis
common adult-type hypolactasia (lactose intolerance)
- lactose intolerance is caused by a variant of a regulatory element.