Phenylketonuria (PKU)
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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:
https://www.facebook.com/groups/PKUworldwidesupport
https://www.facebook.com/groups/229116033923001
https://www.facebook.com/groups/nspku
Medical Information about Phenylketuria:
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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.
Symptoms
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:
Diagnosis
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:
Prognosis
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.