What is phenylketonuria (PKU)?
Phenylketonuria (PKU) is an absence or deficiency in phenylalanine hydroxylase (PAH), an enzyme involved in metabolizing or converting the amino acid phenylalanine into tyrosine, another amino acid. PAH deficiency results in high levels of blood phenylalanine and an accumulation of phenylketones in the urine.
Partial deficiency of the enzyme results in hyperphenylalaninemia. In this condition, the child has elevated blood phenylalanine, although it is not quite as high as when there is a complete absence of PAH. In hyperphenylalaninemia, phenylketones do not accumulate.
Transition through the years
Children go through many changes as they grow up, including how they think, what they like, and how they take care of themselves. Big changes are often called transitions.
A child must go through a transition in health care when they are diagnosed with PKU. The family and the health care team can help them learn good health care habits, the same way they help them learn other life skills. A child who learns good health care habits will probably have good health habits and attitudes all their life.
This page will help you think about age-appropriate goals for your child. It will give you ideas to help your child become more confident and independent in life and in their health care. It also includes extra goals for children with PKU.
Each child has different abilities from other children. Your child may surprise you with what they can do. Expect good things from your child and encourage them to expect the best from themselves.
Six to seven years old
Parenting
Have rules to follow at home. Set reasonable consequences when rules are not followed.
Give your child tasks at home. Set routines for household chores.
Tell your child when they have done something good.
Give your child choices. Encourage them to make decisions.
Social
Encourage your child to have hobbies and do things for fun. For example, they can take part in community activities, sometimes without parents.
Set an example of good social behaviour for your child.
Talk to your child about friends and school.
Cognitive (learning) development
Encourage your child to be creative and use their imagination.
Support your child's school work but let them do their own work.
Teach your child important phone numbers and addresses. Give them other helpful tasks where they can use their memory.
Life skills
Have your child run simple errands and perform simple chores and self-help tasks.
Help your child keep track of what they need to do each day by using a calendar.
Help your child learn not to harm themselves or others. For example, teach them not to touch a hot stove, run into the street or hit other people.
PKU care
Explain to your child:
- why it is important to do blood spots once a month
- what causes high PHE levels
Encourage your child to start doing simple tasks related to PKU care. For example, they can prepare the place the blood spot will be taken from, and gather the equipment.
Teach your child what to say when people ask questions about PKU.
Keep a record of your child's diet and PHE levels.
Visit the PKU clinic regularly.
Encourage your child to drink medical formula at lunch time in school.
When your child is in Grade 1, they should have a neuropsychological assessment (a kind of test) near the second school term.
Eight to 11 years old
Parenting
Let your child try new things, even if they will make mistakes. Making mistakes is a part of life and part of learning.
Teach your child to speak up for themselves.
Give your child chances to be creative and use their imagination.
Talk with your child about how the body changes when becoming a teenager (puberty).
Social
Encourage your child to participate in activities at school and outside of school. These can be activities they do with a group or by themselves.
Teach your child to cooperate, play fairly and follow social rules.
Provide social gatherings for your child if you can. For example, have a birthday party or take a group of children to the park.
Cognitive development
Ask your child's ideas for fixing a simple problem. This will help them learn to solve problems.
Encourage your child to ask for help when they find homework or other tasks hard to do.
Let your child plan simple school projects.
Talk about what your child wants to be when they grow up.
Life skills
Have your child perform simple chores and self-help tasks. For example, you and your child could cook together to help them develop responsibility and skills.
Help your child keep track of what they have to do each day by using a calendar.
Help your child not to do harmful things such as swearing or touching other people in an inappropriate way.
Encourage your child to do things such as following safety rules and putting up their hand to speak in class.
PKU care
Explain why it is important to have low PHE levels.
Ask your child what they know about PKU. If there are things they do not understand, explain them to them.
Teach your child to:
- make medical formula
- keep a food record
- tell you about food they eat outside your home
Help your child talk with the PKU team directly.
Help your child to start taking their own blood spots.
Teach your child to read food labels and identify high (red light) and low (green light) protein foods.
When your child is in Grade 6, they should have a neuropsychological assessment (a kind of test).