Adult-onset phenylketonuria revealed by acute reversible dementia, prosopagnosia and parkinsonism
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Phenylketonuria (PKU) is an autosomal recessive disorder caused by deficiency of phenylalanine hydroxylase (PAH) enzyme , usually manifesting in infancy; however, rare cases of adult onset of PKU symptoms have been described [2, 3, 4, 5, 6].
KeywordsNewborn Screening Phenylketonuria White Matter Abnormality Unbalanced Diet Prosopagnosia
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.
Conflicts of interest
On behalf of all authors, the corresponding author states that there is no conflict of interest.
Patient’s anonymity was protected in this case report.