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What is the prevalence of Phenylketonuria?

How many people does Phenylketonuria affect? Does it have the same prevalence in men and women? And in the different countries?

Prevalence of Phenylketonuria

Phenylketonuria (PKU) is a rare genetic disorder that affects the body's ability to break down an amino acid called phenylalanine. It is estimated that PKU occurs in approximately 1 in every 10,000 to 15,000 births worldwide. The prevalence of PKU varies among different populations and ethnicities. Early diagnosis through newborn screening programs and strict dietary management can help individuals with PKU lead healthy lives. It is important to consult with healthcare professionals for accurate information and guidance regarding PKU prevalence and management.



Phenylketonuria (PKU) is a rare genetic disorder that affects the body's ability to break down an amino acid called phenylalanine. This condition is caused by a mutation in the gene responsible for producing an enzyme called phenylalanine hydroxylase.



The prevalence of PKU varies among different populations and regions. In general, PKU is considered a relatively rare disorder. According to available data, the global prevalence of PKU is estimated to be around 1 in 10,000 to 1 in 20,000 births. However, the prevalence can be higher in certain populations, such as individuals of Irish or Turkish descent.



PKU is more commonly diagnosed through newborn screening programs. These programs aim to identify affected infants shortly after birth, allowing for early intervention and treatment. By following a strict low-phenylalanine diet, individuals with PKU can prevent the buildup of phenylalanine in their bodies, which can lead to intellectual disability and other serious health problems if left untreated.



While PKU is considered a rare disorder, its impact on affected individuals and their families can be significant. Ongoing research and advancements in genetic testing and treatment options continue to improve the management and outcomes for individuals living with PKU.


Diseasemaps
2 answers
PKU happens at a rate of one and 50,000 people

Posted Sep 22, 2017 by Nickelle 2000

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PHENYLKETONURIA STORIES
Phenylketonuria stories
Hello to everyone that reads! im currently 19 with a PKU toddler! he was born march 7th 2014. got a call on the 12th and then took a nice long ride a ccouple hundred miles away on the 14th to my son's pku clinic. they explained everything to me and h...
Phenylketonuria stories
I was a month old went the doctors  told my parents that I have pku. I'm 42 years old. I got married in 2005. To a really nice guy but in 2009 my husband passed away on February 13, 2009. At that time I went off diet for 5 years.  And it really mes...
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Found out my baby daughter has got PKU, still getting my head around it all
Phenylketonuria stories
Hi! I'm Andreia. I'm 28 years old. I'm from Portugal living in irland Since 2014. I was diagnosed when I was 12 days old. Still following my diet. My family did everything they could to give me all I needed. I'm a nurse now, have a job, starting my o...
Phenylketonuria stories
It's actually my children that have PKU. Both diagnosed within ten days of birth and doing very well. My daughter is now nearly ten and currently on 7.5 exc. per day. My son is 5 and on 7 exc. per day.  Both are treated at Bristol Childrens Hospit...

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