Many factors can affect a person’s lifespan, ranging from genetics and environment to a family’s medical history.
Mutations in a gene called PAH cause PKU. This gene encodes for an enzyme that is responsible for converting the amino acid phenylalanine into another amino acid, tyrosine. Amino acids are the building blocks of proteins. People with mutations in PAH are unable to process phenylalanine, and so its levels rise dangerously. If untreated, PKU can lead to permanent mental disability.
PKU and lifespan
PKU appears to be no effect on lifespan, whether children receive treatment or not. However, children who don’t receive treatment usually require significant levels of care throughout life, and exhibit many behaviors that can make accidents or injuries more likely.
Can I and my family get counseling?
Finding out that your child has a heritable disease can be disheartening and frightening, even if you know your child will be able to live a normal life with treatment. Many parents feel guilt related to their child’s diagnosis. If you are experiencing feelings of sadness, grief, or guilt, it might be a good idea to talk to a therapist or counselor. Your primary care doctor can direct you to care. Some people prefer to speak to a counselor associated with their religion.
It might be difficult to decide when or whether to tell friends and family about your child’s diagnosis. You shouldn’t feel pressured to discuss this, but talking with a counselor can help you decide when and how to do so if you choose to.
You may also be benefit from joining a structured support group where you can meet others affected by the disease.
Last updated: July 9, 2020
Phenylketonuria News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.
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