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How do I know if I have Phenylketonuria?

What signs or symptoms may make you suspect you may have Phenylketonuria. People who have experience in Phenylketonuria offer advice of what things may make you suspicious and which doctor you should go to to receive treatment

Do I have Phenylketonuria?

Phenylketonuria (PKU) is a rare genetic disorder that affects the body's ability to break down an amino acid called phenylalanine. If left untreated, high levels of phenylalanine can build up in the blood and cause various health problems, including intellectual disability and other neurological issues.



Symptoms:


PKU symptoms can vary from mild to severe, and they may not be immediately apparent in newborns. However, some common signs to look out for include:



  • Delayed development, such as sitting, crawling, or walking

  • Intellectual disability

  • Behavioral problems

  • Seizures

  • Hyperactivity

  • Musty odor in the breath, skin, or urine

  • Skin rashes



Diagnosis:


If you suspect you or your child may have PKU, it is crucial to consult a healthcare professional for proper diagnosis. PKU is typically detected through newborn screening tests, which are performed shortly after birth. These tests involve a small blood sample taken from the baby's heel. If the initial screening suggests PKU, further diagnostic tests will be conducted to confirm the diagnosis.



Treatment:


PKU is a lifelong condition, but with early detection and proper management, individuals with PKU can lead healthy lives. The primary treatment for PKU involves following a strict low-phenylalanine diet. This diet restricts the intake of foods high in phenylalanine, such as meat, fish, eggs, dairy products, nuts, and certain grains. Instead, individuals with PKU consume special medical formulas and foods that are low in phenylalanine.



Monitoring:


Regular monitoring is essential for individuals with PKU to ensure their phenylalanine levels remain within a safe range. This involves frequent blood tests to measure phenylalanine levels and adjust the diet accordingly. Additionally, healthcare professionals may provide guidance on managing PKU during different life stages, such as pregnancy or transitioning to adulthood.



Support:


Living with PKU can be challenging, but there are support networks available to help individuals and their families. PKU clinics, online communities, and advocacy groups can provide valuable resources, information, and emotional support.



If you suspect PKU based on the symptoms described or have concerns about your health, it is crucial to consult a healthcare professional for proper evaluation and guidance.


Diseasemaps
2 answers
Your doctor will test you at birth through newborn screening

Posted Sep 22, 2017 by Nickelle 2000

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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...
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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
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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...
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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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