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Lactase deficiency, congenital (LCT)

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Summary

Lactase deficiency, congenital is an autosomal recessive disorder affecting newborns and characterized by severe, watery diarrhea. The symptoms are due to the malfunction of lactase (LCT) and 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. The disease-causing gene is LCT, which encodes the lactase enzyme, a molecule with lactase and phlorizin hydrolase activity.

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Selected publications

  • Mutations in the translated region of the lactase gene (LCT) underlie congenital lactase deficiency. Kuokkanen M1, Kokkonen J, Enattah NS, Ylisaukko-Oja T, Komu H, Varilo T, Peltonen L, Savilahti E, Jarvela I. PMID: 16400612 (Pubmed)