Short-term Effects of Good Metabolic Control on Cognitive Function, Wellbeing, and Metabolic Parameters in Adult Patients With Phenylketonuria

Kurzfristiger Einfluss Einer Guten Stoffwechseleinstellung Auf Kognitive Funktion, Wohlbefinden Und Stoffwechselparameter Bei Erwachsenen Patienten Mit Phenylketonurie (Short-term Effects of Good Metabolic Control on Cognitive Function, Wellbeing, and Metabolic Parameters in Adult Patients With Phenylketonuria)

The goal of this study is to evaluate if in adult patients with phenylketonuria (PKU) without strict metabolic control during the last 12 months, strict metabolic control for 8 weeks results in an improvement of cognitive function.

Inclusion Criteria:

• Men and women with classical PKU
• Age ≥ 18 years
• Good metabolic control during childhood (at least until 12 years of age)
• Plasma Phe levels ≥ 15 mg/dl for ≥ 1 year
• Written informed consent prior to study participation

Exclusion Criteria:

• Reduced cognitive function (unability to perform test battery)
• Drug and or alcohol abuse
• Treatment with BH4
• Treatment with drugs known to affect cognitive function