A novel mutation within the lactase gene (LCT): the first report of congenital lactase deficiency diagnosed in Central Europe.

ABSTRACT:

Background

Congenital lactase deficiency is an extremely rare gastrointestinal disorder characterized by neonatal-onset watery diarrhoea and failure to thrive. We present the first genetically confirmed case of congenital lactase deficiency in Central Europe.

Case presentation

After an uneventful pregnancy and birth, a male newborn of consanguineous parents of Turkish origin presented with watery diarrhoea. On day 17, he was admitted to hospital with weight loss, hypertonic dehydration, and metabolic acidosis. Additionally, the patient showed an elevated calcium concentration in blood and urine as well as nephrocalcinosis. Diarrhoea stopped during intravenous rehydration and when feeding a glucose-, galactose-, and lactose-free formula. Therefore, glucose-galactose-malabsorp

SUBMITTER: Fazeli W 

PROVIDER: S-EPMC4515929 | biostudies-literature | 2015 Jul

REPOSITORIES: biostudies-literature