Phenylalanine Effects on Brain Function in Adult Phenylketonuria

Andrea Pilotto1, Carl M Zipser2, Edytha Leks2

  • 1From the Neurology Unit (A. Pilotto, A. Padovani), Department of Clinical and Experimental Sciences, University of Brescia, Italy; Department of Neurodegeneration (A. Pilotto, I.L.-S., K.B., W.M., C.S., C.D., A.K.H., D.B.), Hertie Institute of Clinical Brain Research (A. Pilotto, C.M.Z., I.L.-S., K.B., W.M., C.S., C.D., A.K.H., D.B.), Department of Neurology and Stroke (C.M.Z.), Department of Biomedical Magnetic Resonance (E.L., K.S.), and German Center for Neurodegenerative Diseases (I.L.-S., K.B., C.S., C.D., A.K.H., K.S.), University of Tübingen, Germany; Parkinson's Disease Rehabilitation Centre (A. Pilotto), FERB ONLUS, S. Isidoro Hospital, Trescore Balneario, Italy; Department of Pediatrics (D.H., G.G., G.F.H., F.T.), Division for Neuropediatrics and Metabolic Medicine, University of Heidelberg; Department of Pediatrics (P.F., F.T.), Reutlingen Hospital; Department of Neurology (E.S., W.M., D.B.), University-Hospital-Schleswig-Holstein, Campus Kiel, Christian-Albrechts-University Kiel; and Division of Metabolic Diseases (F.J.v.S.), Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, the Netherlands. pilottoandreae@gmail.com.

Neurology
|October 23, 2020
PubMed
Summary

High phenylalanine levels in adults with phenylketonuria correlate with brain function deficits and neuropsychiatric symptoms. This study highlights the impact of phenylalanine on neurological and cognitive health in PKU patients.

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