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
Abnormal Odor
Excessive levels of phenylalanine in the blood may cause greater amounts of organic compounds, particularly a substance called phenyl acetic acid, leaving the body as waste. Excreting high levels of phenylacetic acid may cause an unusual smell.
Children with PKU may smell musty. This may also be described as a stale, moldy smell. This abnormal odor is caused by changes to the smell of sweat, urine or breath due to the increased presence of phenylacetic acid.6‘Phenylketonuria.’ NORD (National Organization for Rare Disorders), 1 Nov. 2019, rarediseases.org/rare-diseases/phenylketonuria/
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