Journal article

The effect of improved dietary control on cognitive and psychiatric functioning in adults with phenylketonuria: the ReDAPT study

Nicholas M Burgess, Wendy Kelso, Charles B Malpas, Toby Winton-Brown, Timothy Fazio, Julie Panetta, Gerard De Jong, Joanna Neath, Sonny Atherton, Dennis Velakoulis, Mark Walterfang

Orphanet Journal of Rare Diseases | BMC | Published : 2021


BACKGROUND: Phenylketonuria (PKU) is an autosomal recessive inherited disorder characterised by a deficiency in phenylalanine hydroxylase. Untreated, PKU is associated with a wide range of cognitive and psychiatric sequelae. Contemporary management guidelines recommend lifetime dietary control of phenylalanine (Phe) levels, however many individuals who discontinue dietary control subsequently suffer symptoms of anxiety, depression and disturbances to cognition. We undertook a prospective cohort study of patients with early-treated phenylketonuria who had ceased dietary control to test the hypothesis that resumption of dietary control of PKU is associated with improvements in measures of psyc..

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Funding Acknowledgements

This study was funded by a Royal Melbourne Hospital Research Foundation grant. Biomarin Pharmaceuticals also provided funding for open access publication fees.