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Xu, R. Phenylketonuria. Encyclopedia. Available online: https://encyclopedia.pub/entry/5321 (accessed on 20 September 2026).
Xu R. Phenylketonuria. Encyclopedia. Available at: https://encyclopedia.pub/entry/5321. Accessed September 20, 2026.
Xu, Rita. "Phenylketonuria" Encyclopedia, https://encyclopedia.pub/entry/5321 (accessed September 20, 2026).
Xu, R. (2020, December 24). Phenylketonuria. In Encyclopedia. https://encyclopedia.pub/entry/5321
Xu, Rita. "Phenylketonuria." Encyclopedia. Web. 24 December, 2020.
Phenylketonuria
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/phenylketonuria

Phenylketonuria (commonly known as PKU) is an inherited disorder that increases the levels of a substance called phenylalanine in the blood. Phenylalanine is a building block of proteins (an amino acid) that is obtained through the diet. It is found in all proteins and in some artificial sweeteners. If PKU is not treated, phenylalanine can build up to harmful levels in the body, causing intellectual disability and other serious health problems.

genetic conditions

References

  1. Blau N. Genetics of Phenylketonuria: Then and Now. Hum Mutat. 2016Jun;37(6):508-15. doi: 10.1002/humu.22980.
  2. Cederbaum S. Phenylketonuria: an update. Curr Opin Pediatr. 2002Dec;14(6):702-6. Review.
  3. Clarke JT. The Maternal Phenylketonuria Project: a summary of progress andchallenges for the future. Pediatrics. 2003 Dec;112(6 Pt 2):1584-7.
  4. de Baulny HO, Abadie V, Feillet F, de Parscau L. Management of phenylketonuriaand hyperphenylalaninemia. J Nutr. 2007 Jun;137(6 Suppl 1):1561S-1563S;discussion 1573S-1575S. doi: 10.1093/jn/137.6.1561S.
  5. Hanley WB. Adult phenylketonuria. Am J Med. 2004 Oct 15;117(8):590-5. Review.
  6. Regier DS, Greene CL. Phenylalanine Hydroxylase Deficiency. 2000 Jan 10[updated 2017 Jan 5]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH,Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): Universityof Washington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1504/
  7. Scriver CR. The PAH gene, phenylketonuria, and a paradigm shift. Hum Mutat.2007 Sep;28(9):831-45. Review.
  8. What you need to know about ... phenylketonuria. Nurs Times. 2003 Jul 29-Aug4;99(30):26. Review.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Rita Xu
View Times: 1.9K
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 24 Dec 2020
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