10 Phenylketonuria Symptoms

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By sarah-jane
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Reviewed: dr. vanta
Article Sources Article Sources
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  • 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

Developmental Delays

Children with phenylketonuria typically don't develop as expected. Parents may notice their child is slow to pick up normal childhood skills, such as eating without assistance, talking, crawling and walking. Developmental delays may be a major symptom of phenylketonuria.

Unmanaged, phenylketonuria may cause extensive brain damage. This may lead to full intellectual disability. Any damage is permanent. If management begins at an early age, however, many children with PKU develop into well-adjusted adults who lead regular lives.8‘Frequently Asked Questions | PKU Academy.’ EXCEMED - Excellence in Medical Education, www.excemed.org/pku-academy/faq

Phenylketonuria

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