Unlike in young children, there isn't any evidence yet that high phenylalanine levels cause any permanent brain damage in adults with PKU. Some adults with PKU may have higher phenylalanine levels because they find it difficult to follow the low-protein diet or have returned to a normal diet. As a result, they may find they don't function as well. These adverse effects can usually be reversed by going back on to a stricter diet to bring the phenylalanine levels down again.
For women with PKU, it's essential that they return to a strict diet if they're considering becoming pregnant, as high phenylalanine levels can harm an unborn child. Women with PKU have to take particular care during pregnancy, as high levels of phenylalanine can damage the unborn baby.
Provided that phenylalanine levels are strictly controlled during pregnancy, problems can be avoided and there's no reason why a woman with PKU shouldn't be able to have a normal, healthy baby.
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It's recommended that all women with PKU plan their pregnancies carefully. You should aim to follow a strict diet and monitor your blood twice a week before becoming pregnant. It's best to try to conceive once phenylalanine levels are within the target range for pregnancy. During pregnancy, you'll be asked to provide blood samples 3 times a week and will be in frequent contact with your dietitian. As soon as your baby is born, phenylalanine control can be relaxed and there's no reason why you can't breastfeed your baby.
Contact your PKU doctors and dietitians as soon as possible if you become pregnant when your phenylalanine levels aren't adequately controlled. If your phenylalanine levels can be brought under control within the first few weeks of your pregnancy, the risk of damage to the baby should be small. But your pregnancy will need to be monitored very carefully. This helps scientists look for better ways to prevent and treat this condition.
You can opt out of the register at any time. Page last reviewed: 2 December Next review due: 2 December Aspartame People with PKU also have to avoid food products that contain aspartame, as it's converted into phenylalanine in the body. It's recommended that children who are: 6 months of age or younger should have their blood tested once a week between 6 months and 4 years of age should have their blood tested once every 2 weeks over 4 years of age should have their blood tested once a month Someone with PKU will usually need to have regular blood tests throughout their life.
I was never invited to parties because the PKU food was too hard to accommodate or didn't want me to bring my own food. Medication was poured in my hair and food was stolen as well as the PKU food being mocked. Many adults expressed frustration that the symptoms or issues which maybe a direct or indirect consequence of PKU, were not always taken seriously by health professionals. Verbatim extracts from adults about their symptoms and not being listened to by health professionals.
A day in the life of a working mother with PKU
It feels odd to now see that maybe my thinning hair, maybe my flaky nails, maybe my weight-difficulties, anxiety, fear and emotional sensitivity are all affected by PKU and how my body is coping. Clinical treatment falls so short. Most GPs aren't familiar with the diet so you can't turn to them for help, and the GP and the clinic don't talk to each other so health issues that might be related to your PKU aren't treated holistically……. There was overlap with themed comments in this section and impact of treatment on socialisation but also included frustrations about adults not fulfilling their full potential at work, issues with personal relationships, and lack of spontaneity with social situations.
Verbatim extracts from adults about impact of PKU on the quality of their life. I feel that I am not able to realise my potential at work and in relationships with friends and family. My working relationships are temporary, friendships are short lived and my relationships with family members are distant at times.
Phenylketonuria (PKU) - Diagnosis and treatment - Mayo Clinic
Some employment opportunities are restricted due to the nature of requiring prescription foods in addition to supplements. I conform to the diet. I take all my medication. I manoeuvre my whole life around it. Having a child or person with PKU considerably impacted on the life of caregivers. They describe the constant pressure of dealing with dietary management and how this is a daily struggle in their lives.
It was clear that the burden of care lasts over many years with parents being equally as concerned about their teenagers as they are with infants and young children.
Off-Diet Young Adults with PKU: Lives in Danger
When you can cause irreversible brain damage to your child, it causes a lot of worry, stress and even panic. As a carer for a child of PKU and having had 2 other children I have found that having a child with PKU has been the most difficult thing I have experienced in my life because of my child's continual rebellion against the condition and the fact that it will never go away has had a massive detrimental impact on my mental health and wellbeing. There's never a break - home, school, social events it's a cloud that hangs over her.
It takes so much time and planning every day that at times it is hard to sustain. Difficult as a parent to be always saying no and having to be so controlling over what he eats, where he goes etc for fear of noncompliance. The battle of trying to stick to the very restrictive diet day in day out plus the addition of monitoring blood has been extremely hard work. It has made myself and my husband make the decision to not have any more children.
We report the results from one of the largest surveys completed by people living with PKU. Many respondents struggled with long term dietary management and they were only able to adhere to this with variable success. Thematic analysis of open-ended questions from this survey particularly identified issues with the practical application and acceptability of dietary treatment, effect on socialisation, and the burden of care associated with dietary management. In addition, PKU affected physical, psychological and emotional health, social wellbeing, interpersonal relationships [ 7 , 8 ] as well as education and work.
A diagnosis of PKU in an infant fundamentally changes the lives of parents and caregivers and it has a significant psychological impact. The knowledge that their actions can affect the neurocognitive outcome of their children is a heavy responsibility. Parents found balancing their own work and PKU care challenging and some mothers stopped work or reduced their working hours to take care of their child with PKU, with personal career ambitions taking a low priority. Fear of neglecting non PKU siblings was a significant concern.
Some of the parents said they found PKU very difficult to accept and wanted their child to experience normality. Stigmatisation, misconceptions and the feeling of social exclusion were common issues in both children and adults, and eating away from the home was a huge barrier to adherence. The general public do not have an understanding of protein restrictions and for people with PKU having to eat different food caused unwanted attention.
yuzu-washoku.com/components/2020-08-08/3532.php Some respondents said they did not disclose their diagnosis as the implications of PKU can be difficult to explain to others. As a result, some children withdrew from social situations or refused to attend school.
Some adults described how bullying in childhood remained with them throughout their life and affected their relationship with food, leading to a lifetime of disordered eating. The latter has previously been reported in PKU [  ,  ,  ]. Adults in this survey also described how they withdrew from social situations and became socially isolated. It was clear that maintaining a lifelong low Phe diet is not a realistic option for many in adulthood. Some adults described how they found dietary management complex and impractical and abandoned treatment, with some withdrawing from medical care.
Some of the adults had stopped dietary treatment in childhood and the thought of diet recommencement was almost inconceivable. Some adults who remained on diet said they maintained higher blood Phe levels than target ranges and had lifelong feelings of self-failure. Adults who received support from partners or family appeared to cope with dietary treatment better. Some described how they received ambivalent messages from health professionals about the need to follow dietary treatment so were not fully committed to it.
Previous research has shown that half of adult patients interrupt their dietary treatment at least once over four years [ 13 ] but reinstatement of dietary therapy is associated with a low success rate [ 14 ]. Even individuals who said they achieved acceptable blood Phe control, still reported having to adapt and compromise some of their dietary standards to cope with holidays, work and social events. Amongst both adults and children, cognitive and executive function deficits, mental health, general and gut health issues were identified from our survey.
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Both groups commonly described issues of inattention, depression, anxiety, behavioural issues, irritability, poor memory, and headaches. All of these problems have been well described in PKU [  ,  ,  ,  ,  ]. Many of the participants who identified anxiety or depression had been prescribed medication. Some recognised that their poor organisation and planning affected their daily life, their ability to follow a low Phe diet or maintain employment. Many respondents described a lack of psychological support within their clinics and only one in five patients were referred to a psychologist.
Some respondents described their frustrations with their local health care teams rather than specialist care poor knowledge of PKU and their attitudes to treatment. Some highlighted inefficiencies, delays and even refusal of access to Foods for Special Medical Purposes low protein foods and protein substitutes , and lack of communications between local health care and specialist teams.
Some adults stated their distress when their symptoms were not believed or were trivialised and commonly dismissed as being unrelated to PKU, or they felt ignored or belittled by health professionals. It was commonly regarded that the negative responses of health professionals represented a significant barrier to successful application of care. Although this is a UK survey, it is likely that the findings from this survey are relevant to PKU populations in other countries.
Almost all societies will find a low Phe diet challenging as food and culture are inextricably linked, with food providing an important foundation for hospitality and comfort.
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In the UK, PKU services do not meet the expectations and needs of people with PKU, particularly as they observe that non-dietary treatments are available to others within Europe. It will be particularly arduous for those disadvantaged to achieve life-long acceptable blood Phe control on dietary management alone. A high proportion of adult respondents were women maybe because more women remain in PKU follow-up care.
Adults lost to follow-up, who are a more likely to be in a negative situation, would probably have been unaware of this survey on the NSPKU website and therefore are probably under-represented in the survey, as are people without easy access to the internet. Responses were not collected directly from teenagers. We also did not match the health effects identified in our survey with the general population or other conditions treated by diet.
Our questionnaire was non-validated, and it was unclear if all the questions were understood by respondents.