" /> Lactase deficiency, congenital - CISMeF





Preferred Label : Lactase deficiency, congenital;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Alactasia, congenital; Disaccharide intolerance II;

Description : Congenital lactase deficiency is a severe gastrointestinal disorder characterized by watery diarrhea in infants fed with breast milk or other lactose-containing formulas.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in lactase (LCT, 603202.0001);

Laboratory abnormalities : Decreased-absent intestinal mucosa lactase activity; Normal maltase, isomaltase, and sucrase activity;

Prefixed ID : #223000;

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29/07/2025


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