File:L-Phenylalanin_-_L-Phenylalanine.svg · Wikimedia Commons · See Wikimedia Commons
phenylketonuria
Sign in to saveAlso known as PKU, phenylalaninemia, Følling's disease, phenylketonurias
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Key facts
- Medical condition (new).name
- Phenylketonuria
- Medical condition (new).image
- L-Phenylalanin - L-Phenylalanine.svg
- Medical condition (new).caption
- Phenylalanine
- Medical condition (new).synonyms
- Phenylalanine hydroxylase deficiency, PAH deficiency, Følling disease
- Medical condition (new).field
- Medical genetics, pediatrics, dietetics
- Medical condition (new).symptoms
- Without treatment: intellectual disability, seizures, hyperactivity, psychiatric problems, musty odor
- Medical condition (new).onset
- At birth
- Medical condition (new).onset_always
- At birth
- Medical condition (new).duration
- Lifelong
- Medical condition (new).types
- Classic, variant
- Medical condition (new).causes
- Genetic (autosomal recessive)
- Medical condition (new).diagnosis
- Newborn screening programs in many countries
- Medical condition (new).treatment
- Diet low in foods that contain phenylalanine; special supplements
- Medical condition (new).medication
- Sapropterin dihydrochloride, pegvaliase
- Medical condition (new).prognosis
- Normal health with treatment
- Medical condition (new).frequency
- ~1 in 12,000 newborns
via Wikipedia infobox
Research
9,270 papers- Phenylketonuria.ReviewLancet (London, England) · 2010Blau N, van Spronsen FJ, Levy HLDOI: 10.1016/S0140-6736(10)60961-0
- Nutrition in phenylketonuria.ReviewClinical nutrition ESPEN · 2024Talebi S, Eshraghi PDOI: 10.1016/j.clnesp.2024.09.032
- [Adult phenylketonuria].ReviewOrvosi hetilap · 2017Sumánszki C, Barta AG, Reismann PDOI: 10.1556/650.2017.30888
- Phenylketonuria.ReviewAnnual review of nutrition · 1987Koch R, Wenz EDOI: 10.1146/annurev.nu.07.070187.001001
- [PHENYLKETONURIA].ReviewPolski tygodnik lekarski (Warsaw, Poland : 1960) · 1964TOMASZEWSKI L
- Phenylketonuria.Nature reviews. Disease primers · 2021DOI: 10.1038/s41572-021-00274-1
- Adult phenylketonuria.ReviewThe American journal of medicine · 2004Hanley WBDOI: 10.1016/j.amjmed.2004.03.042
- Phenylketonuria: a review.ReviewPostgraduate medical journal · 1970Yu JSDOI: 10.1136/pgmj.46.537.430
via PubMed
~25 min read
Encyclopedic overview
19 sectionsContents
- Signs and symptoms
- Genetics
- Pathophysiology
- Classical PKU
- Tetrahydrobiopterin-deficient hyperphenylalaninemia
- Metabolic pathways
- Screening
- Treatment
- Diet
- Nutritional supplements
- Enzyme substitutes
- Mothers
- Epidemiology
- History
- Etymology and pronunciation
- Research
- See also
- References
- External links
Phenylketonuria (PKU) is an inborn error of metabolism that results in decreased metabolism of the amino acid phenylalanine. Untreated PKU can lead to intellectual disability, seizures, behavioral problems, and mental disorders. It may also result in a musty smell and lighter skin. A baby born to a mother who has poorly treated PKU may have heart problems, a small head, and low birth weight.
Phenylketonuria is an inherited genetic disorder. 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. This results in the buildup of dietary phenylalanine to potentially toxic levels. It is autosomal recessive, meaning that both copies of the gene must be mutated for the condition to develop. The two main types are classic PKU and variant PKU, depending on whether any enzyme function remains. Those with one copy of a mutated gene typically do not have symptoms. Many countries have newborn screening programs for the disease.
Excerpted from Wikipedia’s “phenylketonuria” article, available under the CC BY-SA 4.0 licence.