The clinical consequences of some mutations – those affecting specific transporter proteins or certain enzymes – are relatively straightforward, such as in individuals with congenital lactase deficiency or sucrase-isomaltase deficiency caused by loss-of-function mutations in lactase (Behrendt et al., 2009; Kuokkanen et al., 2006) and sucrase-isomaltase (Ritz et al., 2003), respectively. Here, LCT is linked to hyperinsulinemic hypoglycemia, familial, 4.