Congenital lactase deficiency

Definition:

Congenital lactase deficiency is an autosomal recessive disorder caused by enzyme deficiency for metabolizing lactose.

References:

[1]. Dallas M Swallow, et al. Genetics of lactase persistence and lactose intolerance. Annu Rev Genet. 2003;37:197-219. [Content Brief]

[2]. Mikko Kuokkanen, et al. Mutations in the translated region of the lactase gene (LCT) underlie congenital lactase deficiency. Am J Hum Genet. 2006 Feb;78(2):339-44. [Content Brief]

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