SCIENTIFIC BACKGROUND

LCT

Scientific Background

Severe, neonatal lactose intolerance may be due to congenital lactase deficiency (CLD). Congenital lactase deficiency results in very severe symptomatology that occurs immediately after birth with the first intake of lactose. Infants present with unmanageable watery diarrhea and vomiting, which poses a risk of dehydration. Lactase deficiency must be diagnosed early, and a lactose-free diet started immediately, to prevent failure to thrive and life-threatening conditions occurring.

 

Congenital lactase deficiency is caused by "loss-of-function" variants in the LCT gene that result in lactase deficiency. Inheritance is autosomal recessive, meaning that both alleles must be affected for the disease to manifest phenotypically.

 

The investigation of hereditary lactose intolerance ("adult-onset" form), which phenotypically manifests predominantly in adulthood, is usually not indicated in infancy and early childhood.

 

References

Diekmann et al. 2015, BMC Gastroenterol 15:36 / Vandenplas 2015, Asia Pac J Clin Nutr 24 Suppl 1:S9-13 / Fazeli et al. 2015, BMC Gastroenterol 15:90 / Behrendt et al. 2009, Gastroenterology 136:2295 / Järvelä et al. 2009, Ann Med 41:568 / Torniainen et al. 2009, BMC Gastroenterology 9:8 / Holzel 1967, Arch Dis Child 42: 341

GENES

LCT

ASSOCIATED TESTS

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