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
Irritability
Irritability is a common early symptom of phenylketonuria, sometimes occurring within weeks of birth. In a newborn, this may present as excessive crying, drowsiness, inability to sleep or reluctance to feed. A parent may find it difficult to settle or comfort their child.
Irritability, when caused by phenylketonuria, is thought to be due to the neurotoxic effect of excess phenylalanine. Adults with PKU may experience bouts of restlessness and irritability if their levels of phenylalanine rise.
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