title: 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.
  
  
  METHODS
  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-malabsorption was assumed. However, genetic testing of the SGLT1 (SLC5A1) gene was negative and, indeed, feeding maltodextrine did not result in recurrence of diarrhoea. In contrast, lactose feeding immediately caused watery diarrhoea, suggesting congenital lactase deficiency. Genetic testing of the LCT gene revealed homozygosity for a 1-bp deletion in exon 8 (c.3448delT). Because of the nature of the mutation, causing a frame shift and a premature termination of translation, congenital lactase deficiency was confirmed and intestinal biopsies were unnecessary. The patient's general condition improved substantially on a lactose-free diet, including hypercalcaemia, hypercalciuria, and nephrocalcinosis which, however, only disappeared after months.
  
  
  CONCLUSIONS
  This case demonstrates (a) that congenital lactase deficiency should be considered in cases of severe neonatal diarrhoea, (b) that intestinal biopsies can be avoided in typical cases that are confirmed by genetic testing, and
authors.affiliation: Department of Paediatrics, University Medical Center Hamburg-Eppendorf, Martinistraße 52, D-20246, Hamburg, Germany. Walid.Fazeli@enp.org.
authors.forename: Walid
authors.initials: W
authors.lastname: Fazeli
authors.affiliation: Department of Paediatrics, General Hospital Celle, Celle, Germany. Sigrid.Kaczmarek@akh-celle.de.
authors.forename: Sigrid
authors.initials: S
authors.lastname: Kaczmarek
authors.affiliation: Department of Paediatrics, General Hospital Celle, Celle, Germany. martin.kirschstein@akh-celle.de.
authors.forename: Martin
authors.initials: M
authors.lastname: Kirschstein
authors.affiliation: Department of Paediatrics, University Medical Center Hamburg-Eppendorf, Martinistraße 52, D-20246, Hamburg, Germany. r.santer@uke.de.
authors.forename: René
authors.initials: R
authors.lastname: Santer
mesh_terms: D002239:Carbohydrate Metabolism, Inborn Errors / Q000175:diagnosis* / Q000178:diet therapy / Q000235:genetics*; D003967:Diarrhea / Q000209:etiology; D016368:Frameshift Mutation; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D043322:Lactase / Q000172:deficiency* / Q000235:genetics*; D008297:Male; D014421:Turkey
chemical_list: D043322:Lactase