Congenital lactase deficiency--a more common disease than previously thought?

Congenital lactase deficiency belongs to the Finnish Disease Heritage and is a recessively inherited diarrheal disease of the newborn, in which the activity of the lactase enzyme of the epithelial cells of the small intestine is very low ever since the birth. For the newborn infant, ingestion of lac...

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Bibliographic Details
Published inDuodecim (Helsinki, Finland : 1961) Vol. 125; no. 7; p. 766
Main Authors Torniainen, Suvi, Savilahti, Erkki, Järvelä, Irma
Format Magazine Article
LanguageFinnish
Published Finland 2009
Subjects
Finland - epidemiology
Humans
Infant, Newborn
Lactase - deficiency
Lactose Intolerance - epidemiology
Lactose Intolerance - genetics
Mutation
Finland
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Summary:Congenital lactase deficiency belongs to the Finnish Disease Heritage and is a recessively inherited diarrheal disease of the newborn, in which the activity of the lactase enzyme of the epithelial cells of the small intestine is very low ever since the birth. For the newborn infant, ingestion of lactose causes symptoms so severe that breastfeeding is not possible. Untreated disease leads to dehydration that usually requires hospitalization. Congenital lactase deficiency is caused by mutations in the gene coding for the lactase enzyme (LCT). Seven mutations in a total of 43 patients have been found in Finland so far.
ISSN:0012-7183