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<p><b>New page</b></p><div>[[File:Pku_in_D_alt.jpg|Pku in D alt|thumb]] '''Phenylketonuria''' ('''PKU''') is a rare [[genetic 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]]. In individuals with PKU, a [[mutation]] in the [[gene]] that codes for the enzyme needed to break down phenylalanine prevents the body from processing this amino acid properly.<br />
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==Causes==<br />
PKU is caused by mutations in the [[PAH gene]] that result in reduced activity of phenylalanine hydroxylase, an enzyme necessary for the metabolism of phenylalanine. Without adequate levels of this enzyme, phenylalanine accumulates in the body, leading to various health problems. PKU is inherited in an [[autosomal recessive]] pattern, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected.<br />
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==Symptoms==<br />
The accumulation of phenylalanine in individuals with PKU can cause:<br />
* Intellectual disability<br />
* Developmental delays<br />
* Behavioral, emotional, and social problems<br />
* Seizures<br />
* Skin rashes (eczema)<br />
* A musty odor in the breath, skin, or urine, due to excess phenylalanine<br />
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Early diagnosis and treatment can help prevent the severe outcomes associated with PKU.<br />
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==Diagnosis==<br />
PKU is most commonly diagnosed through newborn screening, a test done on infants shortly after birth to identify certain genetic or metabolic conditions that can lead to serious health problems. The test involves measuring the phenylalanine levels in the baby's blood.<br />
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==Treatment==<br />
The primary treatment for PKU involves a diet low in phenylalanine. This requires strict dietary management to limit the intake of foods high in protein, such as meat, eggs, and dairy products. Special low-protein foods and phenylalanine-free medical formulas are often necessary to maintain safe phenylalanine levels.<br />
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In some cases, medication such as sapropterin (a synthetic form of the enzyme cofactor BH4) may be used in conjunction with dietary management to help reduce phenylalanine levels in the blood.<br />
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==Prognosis==<br />
With early and consistent treatment, individuals with PKU can lead healthy lives. However, it is crucial for those with PKU to adhere to their dietary restrictions and treatment plan throughout their lives to prevent intellectual disability and other complications.<br />
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==Epidemiology==<br />
PKU affects approximately 1 in 10,000 to 15,000 newborns in the United States. The condition is less common in African and Asian populations.<br />
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[[Category:Genetic disorders]]<br />
[[Category:Metabolic disorders]]<br />
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