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
References
Sep 8, 1990·Lancet·A J ThompsonA J Lees
Aug 1, 1967·Klinische Wochenschrift·J G Gostomzyk, F Dressler
Jan 1, 1995·Journal of Inherited Metabolic Disease·V LeuzziI Antonozzi
Mar 21, 1998·Journal of Inherited Metabolic Disease·J WeglageK Ullrich
Nov 11, 1998·Journal of Cerebral Blood Flow and Metabolism : Official Journal of the International Society of Cerebral Blood Flow and Metabolism·H E MöllerK Ullrich
Oct 24, 2000·European Journal of Pediatrics·I Smith, J Knowles
Nov 28, 2001·Journal of Neurology, Neurosurgery, and Psychiatry·S KasimH A Jinnah
Oct 17, 1953·Lancet·H BICKELE M HICKMANS
Sep 1, 1961·American Journal of Diseases of Children·D M ALLEN, L K DIAMOND
Sep 24, 2005·Molecular Genetics and Metabolism·Lisbeth Birk MøllerFlemming Güttler
Feb 12, 2008·European Journal of Obstetrics, Gynecology, and Reproductive Biology·William B Hanley
Dec 2, 2008·The British Journal of Psychiatry : the Journal of Mental Science·Glynis H MurphyPhilip Lee
Oct 26, 2010·Lancet·Nenad BlauHarvey L Levy
Feb 4, 2014·The Journal of Pediatrics·Rianne JahjaFrancjan J van Spronsen
May 17, 2015·Seminars in Perinatology·Bradford L TherrellJohn Adams
Feb 26, 2016·Journal of Inherited Metabolic Disease·Rianne JahjaStephan C J Huijbregts
Jan 14, 2017·The Lancet. Diabetes & Endocrinology·Francjan J van SpronsenAnita MacDonald
Mar 21, 2017·Neuropsychology·Rianne JahjaFrancjan J van Spronsen
Citations
Sep 6, 2019·Journal of Medical Genetics·Vincenzo LeuzziFrancjan J van Spronsen
Nov 17, 2019·Nutrients·Danique van VlietFrancjan J van Spronsen
Nov 30, 2019·Orphanet Journal of Rare Diseases·Cristina RomaniVincenzo Leuzzi
Feb 29, 2020·Orphanet Journal of Rare Diseases·Claire CannetFriedrich Trefz
Sep 22, 2020·Journal for Specialists in Pediatric Nursing : JSPN·Tracy B LoweGeorgianne Arnold
Sep 24, 2020·The Journal of International Medical Research·Kamil Konrad HozyaszKatarzyna Chyż
Oct 8, 2020·Nutrients·Cristina RomaniVincenzo Leuzzi
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