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Hydrogen (H2) measurement in exhaled breath is a reliable and non-invasive method to diagnose carbohydrate malabsorption. Currently, breath H2 measurement is typically limited to clinic-based equipment. A portable breath analyser (AIRE, FoodMarble Digestive Health Limited, Dublin, Ireland) is a personalised device marketed for the detection and self-management of food intolerances, including lactose malabsorption (LM). Currently, the validity of this device for breath H2 analysis is unknown. Individuals self-reporting dairy intolerance (six males and six females) undertook a lactose challenge and a further seven individuals (all females) underwent a milk challenge. Breath samples were collected prior to and at frequent intervals post-challenge for up to 5 h with analysis using both the AIRE and a calibrated breath hydrogen analyser (BreathTracker, QuinTron Instrument Company Inc., Milwaukee, WI, USA). A significant positive correlation (p < 0.001, r > 0.8) was demonstrated between AIRE and BreathTracker H2 values, after both lactose and milk challenges, although 26% of the AIRE readings demonstrated the maximum score of 10.0 AU. Based on our data, the cut-off value for LM diagnosis (25 ppm H2) using AIRE is 3.0 AU and it is effective for the identification of a response to lactose-containing foods in individuals experiencing LM, although its upper limit is only 81 ppm.

Congenital lactase deficiency (CLD) is a severe autosomal recessive genetic disorder that affects the functional capacity of the intestinal protein lactase-phlorizin hydrolase (LPH). This disorder is diagnosed already during the first few days of the newborn’s life due to the inability to digest lactose, the main carbohydrate in mammalian milk. The symptoms are similar to those in other carbohydrate malabsorption disorders, such as congenital sucrase-isomaltase deficiency, and include severe osmotic watery diarrhea. CLD is associated with mutations in the translated region of the LPH gene that elicit loss-of-function of LPH. The mutations occur in a homozygote or compound heterozygote pattern of inheritance and comprise missense mutations as well as mutations that lead to complete or partial truncations of crucial domains in LPH, such as those linked to the folding and transport-competence of LPH and to the catalytic domains. Nevertheless, the identification of the mutations in CLD is not paralleled by detailed genotype/protein phenotype analyses that would help unravel potential pathomechanisms underlying this severe disease. Here, we review the current knowledge of CLD mutations and discuss their potential impact on the structural and biosynthetic features of LPH. We also address the question of whether heterozygote carriers can be symptomatic for CLD and whether genetic testing is needed in view of the severity of the disease.