Four novel mutations in the lactase gene (LCT) underlying congenital lactase deficiency (CLD).

ABSTRACT:

Background

Congenital lactase deficiency (CLD) is a severe gastrointestinal disorder of newborns. The diagnosis is challenging and based on clinical symptoms and low lactase activity in intestinal biopsy specimens. The disease is enriched in Finland but is also present in other parts of the world. Mutations encoding the lactase (LCT) gene have recently been shown to underlie CLD. The purpose of this study was to identify new mutations underlying CLD in patients with different ethnic origins, and to increase awareness of this disease so that the patients could be sought out and treated correctly.

Methods

Disaccharidase activities in intestinal biopsy specimens were assayed and the coding region of LCT was sequenced from five patients from Europe with clinical features compati

SUBMITTER: Torniainen S 

PROVIDER: S-EPMC2635369 | biostudies-literature | 2009 Jan

REPOSITORIES: biostudies-literature