10 Phenylketonuria Symptoms

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By sarah-jane
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Reviewed: dr. vanta
Article Sources 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
Medical Expert Medical Expert

Blue Eyes

Another visible phenylketonuria symptom may be light blue eyes. This may also be related to a reduced amount of melanin, a pigment that darkens eye color. When viewed with an optical examination, the back part of the eye, known as the fundus, may also be paler than normal.

Some people with phenylketonuria may be especially sensitive to light or unable to discern slight changes in lighting. Individuals may also experience cloudy patches in the eye.3Murphy, Brian. ‘Phenylketonuria and the Eyes.’ Phenylketonuria News, 24 Sept. 2020, phenylketonurianews.com/2020/09/24/phenylketonuria-and-its-effect-on-eyes/

Phenylketonuria

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