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PKU

What is Phenylketonuria (PKU)?

PKU is a genetic disorder, diagnosed at birth, where an amino acid called phenylalanine (phe) cannot be properly metabolised. A build-up of phe in the blood and tissues can impair growth, development and cognition. All foods containing protein also contain phe, as a result, those living with this condition must follow a low protein (phe) diet. This ensures phe blood levels are within a safe range.

PKU is highly treatable and if well managed, can ensure proper childhood development and the prevention of neuro-cognitive/muscular symptoms. Poor management can result in:

  • Developmental issues
  • Neurocognitive impairment
  • Behavioural and emotional problems
  • Tremors
  • Headaches
  • Weak or stiff legs

A PKU protein supplement is often prescribed to provide the necessary protein as well as all the essential amino acids (except phe) to ensure proper growth, repair and bodily functions.

What causes PKU?

PKU is caused by a faulty gene which causes a deficiency in a liver enzyme called phenylalanine hydroxylase (PAH) which helps to metabolise phe. Both parents must carry this faulty gene for the child to inherit this condition.

In Australia and New Zealand, all newborns are screened for PKU by conducting a blood test. Upon diagnosis, a metabolic clinic team will provide immediate support and supply phe-free baby formula.

How can Bites Dietitians help?

Whether you’re living with this condition yourself or are a parent of a child with PKU, our Dietitians provide ongoing personalised support to help manage the disease while optimising nutritional health and wellbeing.

PKU is a lifelong condition so our Dietitians will cater their care depending on the life-stage. A low protein diet is a necessary but restrictive practice which may manifest in nutritional and vitamin deficiencies. By conducting a comprehensive diet history, Bites dietitians can help identify ‘gaps’ in the diet and provide the appropriate recommendations and dietary interventions. This is to ensure all nutritional needs are met without exceeding phe target levels. Each individual living with PKU will have differing levels of protein tolerance. By monitoring and reviewing both phe levels and dietary intake, our Dietitians can help implement some protein-containing foods and adjust the ‘grams of protein’ allowance per day. They will also guide you in the art of protein counting, filling in food diaries and recognising the different sources of both protein ‘free’ and protein-containing foods.

Our Bites Dietitians also understand the social and environmental limitations regarding adherence to the PKU diet and supplements (especially amongst children). They will help identify specific barriers and help support and design strategies to best implement moving forwards. For example, PKU protein supplements are available in different forms so our dietitians will provide recommendations for specific supplements that best suit one’s nutritional needs, preferences and lifestyle.

An interesting fact about PKU

Sport and exercise are highly recommended for people living with PKU. Despite the myth that a high level of protein is required for muscle recovery and growth, PKU protein supplements can often provide enough protein for the body. Aim to do 150-300 min of moderate-physical activity per week as well as resistance training 2-3 times a week to optimise health and wellbeing. However, individuals with PKU must avoid commercial protein powders and supplements as they contain large amounts of phe. In fact, you can treat your PKU supplement as ‘protein shake’ and consume it after training sessions and spread doses throughout the day to optimise muscle recovery and growth.

What improvements can you expect from a tailored exercise program?

  • Normal growth and development
  • Phe blood levels within the normal range
  • Improved overall nutritional status

For adults expect (if recommencing PKU diet/supplement):

  • Increased energy levels
  • Increased attention and concentration
  • Improved mood and behaviour
  • Reduced symptoms of depression/anxiety
  • Phe blood levels within the normal range
  • Healthy weight gain or weight loss (depending on client goal)

How will you know it’s working/you’re improving?

You will know if our tailored dietary prescription is working if your blood tests are consistently within the safe normal range. Furthermore, you will experience greater confidence in managing PKU while improving quality of life and adherence to PKU diet and supplements.

Helpful things to bring/remember before your first appointment

  • Referral if you have one
  • Blood results (phe/tyr)
  • Medications and medical history
  • Food record/apps
  • Information regarding relevant PKU supplements/medications

Additional if you are a parent:

  • Breastfeeding/formula records
  • Growth charts (blue book)

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305/29–31 Lexington Drive, Bella Vista NSW 2153

0452 458 146

info@biteshealth.com

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