Can untreated PKU patients escape from intellectual disability? A systematic review

Orphanet Journal of Rare Diseases
Danique van VlietF J van Spronsen

Abstract

Phenylketonuria (PKU) is often considered as the classical example of a genetic disorder in which severe symptoms can nowadays successfully be prevented by early diagnosis and treatment. In contrast, untreated or late-treated PKU is known to result in severe intellectual disability, seizures, and behavioral disturbances. Rarely, however, untreated or late-diagnosed PKU patients with high plasma phenylalanine concentrations have been reported to escape from intellectual disability. The present study aimed to review published cases of such PKU patients. To this purpose, we conducted a literature search in PubMed and EMBASE up to 8th of September 2017 to identify cases with 1) PKU diagnosis and start of treatment after 7 years of age; 2) untreated plasma phenylalanine concentrations ≥1200 μmol/l; and 3) IQ ≥80. Literature search, checking reference lists, selection of articles, and extraction of data were performed by two independent researchers. In total, we identified 59 published cases of patients with late-diagnosed PKU and unexpected favorable outcome who met the inclusion criteria. Although all investigated patients had intellectual functioning within the normal range, at least 19 showed other neurological, psychological, an...Continue Reading

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Citations

Nov 17, 2019·Nutrients·Danique van VlietFrancjan J van Spronsen
Nov 30, 2019·Orphanet Journal of Rare Diseases·Cristina RomaniVincenzo Leuzzi
Sep 24, 2020·The Journal of International Medical Research·Kamil Konrad HozyaszKatarzyna Chyż
Feb 7, 2021·BMC Health Services Research·Alireza HeidariBehzad Damari
Oct 16, 2020·JCI Insight·Erik A KoppesRobert D Nicholls
Apr 20, 2021·Molecular Genetics and Metabolism Reports·Miroslaw Bik-MultanowskiAnna Madetko-Talowska
May 22, 2021·Nature Reviews. Disease Primers·Francjan J van SpronsenAnnet M Bosch
Aug 15, 2021·Parkinsonism & Related Disorders·Tina MainkaChristos Ganos
Sep 3, 2021·The Journal of Pediatrics·Annemiek M J van WegbergUNKNOWN Study Group on Missed PKU and Missed to Follow-Up

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