TY - JOUR AU - Diekmann, Lena AU - Pfeiffer, Katrin AU - Naim, Hassan Y. PY - 2015 DA - 2015/03/21 TI - Congenital lactose intolerance is triggered by severe mutations on both alleles of the lactase gene JO - BMC Gastroenterology SP - 36 VL - 15 IS - 1 AB - Congenital lactase deficiency (CLD) is a rare severe autosomal recessive disorder, with symptoms like watery diarrhea, meteorism and malnutrition, which start a few days after birth by the onset of nursing. The most common rationales identified for this disorder are missense mutations or premature stop codons in the coding region of the lactase-phlorizin hydrolase (LPH) gene. Recently, two heterozygous mutations, c.4419C > G (p.Y1473X) in exon 10 and c.5387delA (p.D1796fs) in exon 16, have been identified within the coding region of LPH in a Japanese infant with CLD. SN - 1471-230X UR - https://doi.org/10.1186/s12876-015-0261-y DO - 10.1186/s12876-015-0261-y ID - Diekmann2015 ER -