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Blog #8 – Phenylketonuria

Phenylketonuria (PKU)

If this is our first blog you are reading, we like to get some medical professionals to do some research so we can understand and help you (as a parent or a friend of a family) to better understand what it is and more importantly, what communities can you be a part of.  

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Feel free to jump down to the medical description of this condition below but also, get in community to learn more.  Please utilise the groups below if you have not already had access to a support system amongst your journey of understanding PKU: 

Websites for support:





Facebook groups/pages for support: 





Medical Information about Phenylketuria: 

With so many confusing things out on the internet, we also want you to also remember that Take Part supports children like yours on a day to day basis! If you want people to know the TRUTH of what your child is going through, go ahead and create a warrior profile through our website. This can be used to raise awareness on social media, or simply just shared between friends and family for updates. 

As a team, none of us ARE doctors; however we work with some amazing medical professionals that have given us more insight below. Please continue reading and use the information to navigate your own personal journey or share with anyone you may know may benefit. 

PKU is a rare genetic disorder in which phenylalanine hydroxylase enzyme is absent in your child which is involved in metabolism of phenylalanine amino acid converting it into tyrosine. If your child has PKU, they will develop a build-up of phenylalanine in the blood which could in turn be toxic if it crosses the brain. It is an autosomal recessive disorder which occurs by various mutations in the PAH gene. Different mutations in the gene will cause varying degrees of enzyme activity. Regarding the severity, your child might have one of two kinds of PKU: classic PKU or a less severe form.

  • The classic form is the most severe form of PKU in which the phenylalanine hydroxylase enzyme would be completely missing or severely reduced, resulting in severe brain damage.
  • In less severe form, the enzyme maintains some functions and results in smaller risks of brain damage.


Initially your new-born children would not have symptoms of PKU however, they would develop symptoms within a few months. Your child with PKU might show symptoms of:

  • Neurological problems including seizures
  • Skin discoloration and rashes or eczema
  • Stunted growth and microcephaly 
  • Musty breath, urine, and skin odour
  • Delayed development and intellectual disability and psychiatric disorders
  • Hyperactivity 


The new-born babies of one to two days of age are usually screened for PKU by blood samples. The blood or urine tests will confirm whether your child has PKU or not. Further, genetic testing is usually carried out to look for the types of mutations causing PKU. 

Treatment and management 

The treatment of your child with PKU involves lowering of phenylalanine levels in plasma. The treatment options might include:  

  • Cutting back the proteins to reduce the phenylalanine intake in case if your child has moderate PKU
  • Amino acid supplementations to get the required nutrients
  • Avoiding foods containing aspartame such as artificial sweeteners
  • Sapropterin medication to lower phenylalanine levels


The prognosis for your child with PKU is very good if treatment is followed properly. Delayed treatment would cause intellectual disabilities in your child. Most of the children with PKU could live a healthy life with lifelong treatments.

How is PKU inherited?

The mutation responsible for PKU is passed on to your children from parents who are carriers and don’t show symptoms. PKU is inherited in autosomal recessive manner which means that two copies of the mutated gene each from both the parents causes the condition.