Congenital Lactase Deficiency: Mutations, Functional and Biochemical Implications, and Future Perspectives

Nutrients
Dalanda WanesHassan Y Naim

Abstract

Congenital lactase deficiency (CLD) is a severe autosomal recessive genetic disorder that affects the functional capacity of the intestinal protein lactase-phlorizin hydrolase (LPH). This disorder is diagnosed already during the first few days of the newborn's life due to the inability to digest lactose, the main carbohydrate in mammalian milk. The symptoms are similar to those in other carbohydrate malabsorption disorders, such as congenital sucrase-isomaltase deficiency, and include severe osmotic watery diarrhea. CLD is associated with mutations in the translated region of the LPH gene that elicit loss-of-function of LPH. The mutations occur in a homozygote or compound heterozygote pattern of inheritance and comprise missense mutations as well as mutations that lead to complete or partial truncations of crucial domains in LPH, such as those linked to the folding and transport-competence of LPH and to the catalytic domains. Nevertheless, the identification of the mutations in CLD is not paralleled by detailed genotype/protein phenotype analyses that would help unravel potential pathomechanisms underlying this severe disease. Here, we review the current knowledge of CLD mutations and discuss their potential impact on the struc...Continue Reading

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Citations

Feb 13, 2020·Current Pharmaceutical Design·Rafael Guille SeoaneDamián Cordoba-Diaz
Oct 3, 2020·NeoReviews·Anna-Kaisa Niemi Md
Jun 21, 2020·Diagnostics·Luelle Robles, Ronny Priefer
Feb 18, 2020·International Journal of Biological Macromolecules·David Talens-PeralesJulio Polaina
Jun 19, 2021·World Journal of Clinical Cases·Saria DbarAlina Makarova

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Methods Mentioned

BETA
glycosylation

Software Mentioned

PolyPhen

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