Adult-onset phenylketonuria revealed by acute reversible dementia, prosopagnosia and parkinsonism

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This research has been in part supported by a grant from Regione Toscana and National Ministry of Health to AF. Authors kindly thank Dr. F. Calì, Laboratorio di Genetica Molecolare, U.O.C. di Genetica Medica, Associazione OASI Maria SS. ONLUS—IRCCS, Troina, EN, for the execution of the genetic testing.

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On behalf of all authors, the corresponding author states that there is no conflict of interest.

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Patient’s anonymity was protected in this case report.

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Correspondence to Antonio Federico.

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Rosini, F., Rufa, A., Monti, L. et al. Adult-onset phenylketonuria revealed by acute reversible dementia, prosopagnosia and parkinsonism. J Neurol 261, 2446–2448 (2014).

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  • Newborn Screening
  • Phenylketonuria
  • White Matter Abnormality
  • Unbalanced Diet
  • Prosopagnosia