Phenylketonuria (PKU) is an inherited disorder of amino acid metabolism. Without treatment it often leads to profound mental retardation and further neurological symptoms. Today PKU is identified by newborn-screening and successfully treated in most countries.While cognitive abilities in children and adolescents with PKU have been studied in detail, only few studies have addressed this issue in adult patients. Yet there is evidence that even some treated adults with PKU exhibit certain cognitive deficits. It is assumed that these deficits arise from distinct mechanisms compared to early brain damage in this disease. Theories range from effects of high phenylalanine levels on global cerebral processing speed to highly specific effects on particular neurotransmitter-systems and brain regions, especially in the frontal lobes.Aim of this research project is to further clarify these mechanisms. Therefor we adopt different methods of functional and structural magnetic resonance imaging (MRI) of the human brain in combination with neuropsychological testing.

Group members
Prof. Dr. rer. nat. Dr. med. Bettina Pfleiderer
Dr. med. Benedikt Sundermann
Dipl. Biol. Mahboobeh Dehghan-Nayyeri
Stefan Garde

Cooperations
Prof. Dr. med. Dr. rer. soz. Josef Weglage, Dr. rer. med. Dipl. Psych. Reinhold Feldmann, PD Dr. med. Frank Rutsch, Univ.-Prof. Dr. med. Thorsten Marquardt
(Klinik und Poliklinik für Kinder- und Jugendmedizin – Allgemeine Pädiatrie, Universitätsklinikum Münster)
Arbeitsgruppe Prof. Dr. rer. nat. Harald Möller (Max-Planck-Institut für Kognitions- und Neurowissenschaften, Leipzig)
Dr. med. Wolfram Schwindt (Oberarzt, Institut für Klinische Radiologie)

Publication
Sundermann B*, Pfleiderer B*, Möller HE, Schwindt W, Weglage J, Lepsien J, Feldmann R. (*gleichberechtigte Erstautorenschaft)
Tackling frontal-lobe related functions in PKU through functional brain imaging: a Stroop task in adult patients.
J Inherit Metab Dis 2011, 34(3):711-721 (DOI)