| Summary: | In a small preliminary study, phenylketonuria and poor metabolic control were suggested as risk factors for <i>Helicobacter pylori</i> infection in children as detected with an antigen stool test. We aimed to determine <i>Helicobacter pylori</i> prevalence in an adequately sized group of individuals with phenylketonuria and healthy subjects using the standard gold test (urea breath test). Further, we correlated <i>Helicobacter pylori</i> infection with metabolic control. The study comprised 103 individuals with phenylketonuria and 103 healthy subjects on whom a <sup>13</sup>C 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%; <i>p</i> = 0.41). The frequency of testing and phenylalanine concentrations of <i>Helicobacter pylori</i>-positive and <i>Helicobacter pylori</i>-negative patients with phenylketonuria did not differ (<i>p</i> = 0.92 and <i>p</i> = 0.54, respectively). No associations were detected for body mass index or metabolic control. Forward stepwise regression models revealed that age (<i>p =</i> 0.0009–0.0016) was the only independent correlate of <i>Helicobacter pylori</i> infection with a relatively low fraction of the variability of the condition being explained (adjR<sup>2</sup> = 0.0721–0.0754; model <i>p</i> = 0.020–0.023). In conclusion, <i>Helicobacter pylori</i> infection in phenylketonuria is not more frequent than in the general population. Moreover, it does not depend on metabolic control.
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