OUR APPROACH
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Caring for PKU
If you’re a PKU patient, balancing your Phe level is a lifelong struggle, and maintaining management and PKU health care for life is recommended. If your levels go unchecked and slip, chances are you are missing out on your best version of life. It doesn’t have to be this way. By controlling your Phe level, staying alert to subtle symptoms and actions, you can take back control of your life.
Metabolic Clinics
The Metabolic Clinics around Australia provide comprehensive diagnostic and management services for adults with PKU. Clinics are run by a team of highly skilled specialists including metabolic doctors, nurses, dietitians, psychologists and social workers who are trained to look after people with metabolic disorders.
You’ll need a referral from your GP to see the metabolic clinic if you are not currently engaged with your state clinic.
Diet
Current management guidelines includes following a low protein diet, avoiding foods that are high in protein eg: meat, fish, poultry, dairy, legumes, nuts. The diet is based around vegetables & fruit with specialised low protein foods.
Formula
PKU formula/supplement provides essential amino acids, vitamins and minerals taken three to four times a day. There are a wide range and choice of formulas available. Your metabolic team will work with you to find a suitable option.
PKU formulas are only available via health practitioner prescription.
Clinical Care
Regular Guthrie card testing/bloodspot testing monitor Phe levels. Regular attendance at your state metabolic clinic is part of the management plan.
Clinical Care Guidelines
The following resources have been developed by ASIEM (Australian Society For Inborn Errors of Metabolism) the peak body to advise on best clinical practice of inborn errors of metabolism including PKU.
Return to Care compendium (Contact MDDA to find out how to receive your FREE compendium)
Australasian Consensus Guidelines for the Management of Maternal Phenylketonuria (PKU)
Available and emerging/potential treatments
There are some pharmacological treatment options approved for use in Australia including an enzyme co-factor and enzyme substitution therapy. Some people with PKU may be eligible for subsidised access to treatment. Questions and discussions about additional treatment options should be directed to your specialist metabolic clinic or the MDDA patient pathways nurse can provide general information about the status of treatments in Australia.
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About PKU
It is recommended maintaining your PKU Care for Life to maintain good health and to be the best version of you. Some people who have gone off their diet and treatment then start again say that their overall health and wellbeing improve.
We are here to help you navigate the return to PKU Lifetime of Care. Contact us today and we will help you take back control of your life.
Phenylketonuria
Phenylketonuria (PKU) occurs in 1 in 10,000 babies born in Australia. PKU is a genetic metabolic disorder in which phenylalanine (phe) is unable to be metabolised. Phe is one of the building blocks (amino acids) of proteins. People with PKU cannot properly break down the extra phe so phe builds up in the person’s blood, urine, and body. People with PKU need phe, but only a small amount. If PKU is not treated, phe can build up to harmful levels in the body and this can affect many body systems including the brain and nervous system. (1,2,3,4,5)
Since the mid 1960s babies born in Australia have been screened for PKU shortly after birth. For adults who were taken off diet/treatment as children, resuming a Low Protein care plan can assist to reduce symptoms of high Phe, including anxiety, depression and cognitive function.
Recommended PKU Lifetime of Care
In Australia all metabolic clinics recommend maintaining your PKU Care for Life to maintain good health.
Studies show that staying on diet throughout your entire life is beneficial and recommended. Some people with PKU who have gone off their diet and then start it again say that when they are back on the diet, they:
- feel better
- look better
- think more clearly
- are less moody and find it easier to get along with others
- feel less tired and have more energy
- can concentrate
- can organise and think through work tasks & communicate positively with work colleagues
- can think clearly to study and do exams
- find it easier to communicate with their partner/family members & friends. (5)
Attending clinic regularly, learning about the diet, supplements and monitoring your phe levels takes commitment. It is important to have support on the journey to a healthier, more productive lifestyle. (5)
Personal Stories
Some people find it challenging to resume their low protein diet and formula. There is a lot of learning involved and adjustments to be made. It is normal to feel a bit overwhelmed. Making a sustained change can take time and it is OK to have several attempts to get it right.
Member Stories
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Resources
These collection of resources and information are designed to help you find the information you need to support your journey to return to PKU health care, take control of your PKU and take back control of your life.
Metabolic Clinics
The Metabolic Clinics around Australia provide comprehensive diagnostic and management services for adults with PKU. Clinics are run by a team of highly skilled specialists including metabolic doctors, nurses, dietitians, psychologists and social workers who are trained to look after people with metabolic disorders.
You’ll need a referral from your GP to see the metabolic clinic if you are not currently engaged with your state clinic.
IEM Food Grant
The Inborn Error of Metabolism Programme provides monthly financial assistance to approved grantees with protein metabolic disorders to assist with the purchasing of low protein foods. The purpose of the IEM grant is to enable people with IEM to stay on strict diets and ensure long term health is maintained.
MDDA Membership & Support Programs
MDDA offer a range of support services across multiple platforms and channels. Joining the MDDA community connects you to other members, keep you updated on new and emerging information.
We have an active private patient/family only PKU Facebook forum where our community comes together to support each other, share life experiences, advice and discuss PKU topics.
Resources
For clinical trials and research updates please visit the Trials and Research Page.
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Enquire
MDDA provides a specialist tele-health nurse who provides online patient access to a coordinated comprehensive care co-ordination service no matter where they live throughout Australia.
Patient Pathways Telehealth Care Co-Ordination Nurse
The main objective is to work with the patient to develop tailored care plans, provide practical and emotional support, education and connection within existing services. The nurse can assist with co-ordination between your GP and the metabolic clinic.
The program provides support to the community in the following areas:
- Reconnecting adults to clinic
- Supporting adults and their families Return to Care & PKU Management for Life
- Assistance with navigating the healthcare system, accessing services and clinical trials
- Assistance to access other eligible government supports eg Centrelink, NDIS, Aged Care
- Provide patients/families/carers with relevant information about available health care options
- Guidance to develop confidence to proactively manage their condition
- Help to optimise social, emotional and physical health
It is important to note that the nurse does not replace the expert clinical care of the metabolic clinic.
This initiative is part of the Patient Pathways Pilot program developed by the Centre for Community-Driven Research.
MDDA have a Privacy Policy which details how we will collect, use, disclose, manage and transfer personal information including health information.
Contact the Patient Pathways Tele-health Case Management Nurse:
Available Monday, Tuesday, Wednesday 9am – 5pm
Return to Care Consult & General Enquiries
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