Diet low in foods that contain phenylalanine; special supplements[2]
Medication
Sapropterin dihydrochloride,[2] pegvaliase[4]
Prognosis
Normal health with treatment[5]
Frequency
~1 in 12,000 newborns[6]
Phenylketonuria (PKU) is an inborn error of metabolism that results in decreased metabolism of the amino acid phenylalanine.[3] Untreated PKU can lead to intellectual disability, seizures, behavioral problems, and mental disorders.[1][7] It may also result in a musty smell and lighter skin.[1] A baby born to a mother who has poorly treated PKU may have heart problems, a small head, and low birth weight.[1]
Phenylketonuria is an inherited genetic disorder.[1] It is caused by mutations in the PAH gene, which can result in inefficient or nonfunctional phenylalanine hydroxylase, an enzyme responsible for the metabolism of excess phenylalanine.[1] This results in the buildup of dietary phenylalanine to potentially toxic levels.[1] It is autosomal recessive, meaning that both copies of the gene must be mutated for the condition to develop.[1] There are two main types, classic PKU and variant PKU, depending on whether any enzyme function remains.[1] Those with one copy of a mutated gene typically do not have symptoms.[1] Many countries have newborn screening programs for the disease.[3]
Treatment is with a diet that (1) is low in foods that contain phenylalanine, and which (2) includes special supplements.[2] Babies should use a special formula with a small amount of breast milk.[2] The diet should begin as soon as possible after birth and be continued for life.[2] People who are diagnosed early and maintain a strict diet can have normal health and a normal life span.[5] Effectiveness is monitored through periodic blood tests.[5] The medication sapropterin dihydrochloride may be useful in some.[2]
Phenylketonuria affects about 1 in 12,000 babies.[6] Males and females are affected equally.[8] The disease was discovered in 1934 by Ivar Asbjørn Følling, with the importance of diet determined in 1935.[9] As of 2023, genetic therapies that aim to directly restore liver PAH activity are a promising and active research field.[10]
^ abcdefghijklm"phenylketonuria". Genetics Home Reference. September 8, 2016. Archived from the original on 27 July 2016. Retrieved 12 September 2016.
^ abcdefg"What are common treatments for phenylketonuria (PKU)?". NICHD. 2013-08-23. Archived from the original on 5 October 2016. Retrieved 12 September 2016.
^ abcAl Hafid N, Christodoulou J (October 2015). "Phenylketonuria: a review of current and future treatments". Translational Pediatrics. 4 (4): 304–17. doi:10.3978/j.issn.2224-4336.2015.10.07. PMC 4728993. PMID 26835392.
^Cite error: The named reference FDA2018Sub was invoked but never defined (see the help page).
^ abc"National Institutes of Health Consensus Development Conference Statement Phenylketonuria: Screening and Management". NICHD. October 16–18, 2000. Archived from the original on 5 October 2016. Retrieved 12 September 2016.
^ abBernstein LE, Rohr F, Helm JR (2015). Nutrition Management of Inherited Metabolic Diseases: Lessons from Metabolic University. Springer. p. 91. ISBN 9783319146218. Archived from the original on 2017-09-11.
^Cannon Homaei S, Barone H, Kleppe R, Betari N, Reif A, Haavik J (November 2021). "ADHD symptoms in neurometabolic diseases: Underlying mechanisms and clinical implications". Neuroscience and Biobehavioral Reviews. 132: 838–856. doi:10.1016/j.neubiorev.2021.11.012. PMID 34774900. S2CID 243983688.
^Marcdante K, Kliegman RM (2014). Nelson Essentials of Pediatrics (7 ed.). Elsevier Health Sciences. p. 150. ISBN 9780323226981. Archived from the original on 2017-09-11.
^Kalter H (2010). Teratology in the Twentieth Century Plus Ten. Springer Science & Business Media. pp. 89–92. ISBN 9789048188208. Archived from the original on 2017-09-11.
^Martinez M, Harding CO, Schwank G, Thöny B (January 2024). "State-of-the-art 2023 on gene therapy for phenylketonuria". Journal of Inherited Metabolic Disease. 47 (1): 80–92. doi:10.1002/jimd.12651. ISSN 0141-8955. PMC 10764640. PMID 37401651.
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is a symptom of several diseases, including Lesch–Nyhan syndrome, phenylketonuria, and Huntington disease and can be a feature of kernicterus (rapidly...
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(depending on factors such as age and gender). An example of pleiotropy is phenylketonuria, an inherited disorder that affects the level of phenylalanine, an...
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