In a small preliminary study, phenylketonuria and poor metabolic control were suggested as risk factors for Helicobacter pylori infection in children as detected with an antigen stool test. We aimed to determine Helicobacter pylori prevalence in an adequately sized group of individuals with phenylketonuria and healthy subjects using the standard gold test (urea breath test). Further, we correlated Helicobacter pylori infection with metabolic control. The study comprised 103 individuals with phenylketonuria and 103 healthy subjects on whom a 13C urea breath test was performed. Blood phenylalanine levels in the preceding year were analysed. The infection rate did not differ between individuals with phenylketonuria and healthy subjects (10.7% vs 15.5%; p = 0.41). The frequency of testing and phenylalanine concentrations of Helicobacter pylori-positive and Helicobacter pylori-negative patients with phenylketonuria did not differ (p = 0.92 and p = 0.54, respectively). No associations were detected for body mass index or metabolic control. Forward stepwise regression models revealed that age (p = 0.0009-0.0016) was the only independent correlate of Helicobacter pylori infection with a relatively low fraction of the variability of the condition being explained (adjR2 = 0.0721-0.0754; model p = 0.020-0.023). In conclusion, Helicobacter pylori infection in phenylketonuria is not more frequent than in the general population. Moreover, it does not depend on metabolic control.
Keywords: anthropometry; inborn errors of metabolism; paediatrics; phenylalanine.