10 Phenylketonuria Symptoms
Article Sources
- 1. 'Phenylketonuria.' NHS.uk, 19 Oct. 2017, www.nhs.uk/conditions/phenylketonuria/
- 2. Murphy, Brian. 'Phenylketonuria and Your Skin.' Phenylketonuria News, 17 Sept. 2020, phenylketonurianews.com/2020/09/17/phenylketonuria-and-your-skin/
- 3. Murphy, Brian. 'Phenylketonuria and the Eyes.' Phenylketonuria News, 24 Sept. 2020, phenylketonurianews.com/2020/09/24/phenylketonuria-and-its-effect-on-eyes/
- 4. Partington, Michael W. 'The Early Symptoms of Phenylketonuria.' Pediatrics, vol. 27, no. 3, Mar. 1961, pp. 465-473
- 5. Healthwise Staff. 'Phenylketonuria (PKU).' Alberta, myhealth.alberta.ca/Health/Pages/conditions.aspx?hwid=stp1354&lang=en-ca
- 6. 'Phenylketonuria.' NORD (National Organization for Rare Disorders), 1 Nov. 2019, rarediseases.org/rare-diseases/phenylketonuria/
- 7. Melania guida. 'Epilepsy and phenylketonuria: a case description and EEG-fMRI findings.' Functional Neurology, vol. 29, no. 1, 2014, pp. 75-79
- 8. 'Frequently Asked Questions | PKU Academy.' EXCEMED - Excellence in Medical Education, www.excemed.org/pku-academy/faq
Seizures
Research indicates up to 50 percent of all people with PKU experience seizures, whereby uncontrolled electrical activity occurs in the brain cells and causes unusual muscle movements, sensations or behaviors. This may present as epileptic fits, tremors, muscle spasms and other neurological effects.
Phenylketonuria causes neurotoxicity and abnormalities in the white matter of the brain, which may lead to seizures. Alterations to the brain may be permanent, even when PKU is addressed early.7Melania guida. ‘Epilepsy and phenylketonuria: a case description and EEG-fMRI findings.’ Functional Neurology, vol. 29, no. 1, 2014, pp. 75-79
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