Congenital lactose intolerance is an autosomal recessive disorder caused by mutations of the LCT gene. It is characterized by intermittend colicky abdominal pain, diarhea and failure to thrive which is exceptionally prominent in babies that depend on milk.
Secondary forms of lactose intolerance may occur as a result of (gastronintestinal) infections.
The disorder is efficiently managed by avoiding food that contains lactose. These are predominantly milk products, but lactose may be hidden in various food products and even in some tablets.
In patients with congenital lactose intolerance, diarrhea manifests with breast feeding.
Enattah NS et al. (2002) Identification of a variant associated with adult-type hypolactasia.[^]
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Järvelä I et al. (1998) Assignment of the locus for congenital lactase deficiency to 2q21, in the vicinity of but separate from the lactase-phlorizin hydrolase gene.[^]
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Rinaldi E et al. (1984) High frequency of lactose absorbers among adults with idiopathic senile and presenile cataract in a population with a high prevalence of primary adult lactose malabsorption.[^]
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