Phenylketonuria (PKU) is a rare, inherited metabolic disorder. We explain causes, symptoms, treatment and how PHE Buddy supports patients, parents, doctors and dietitians – every day.
PKU is one of the most common inherited metabolic disorders. Having it does not mean being sick – it means living differently.
Phenylketonuria (PKU) is an autosomal recessively inherited amino acid metabolism disorder. The gene for the enzyme phenylalanine hydroxylase (PAH) is mutated, preventing the amino acid phenylalanine (Phe) from being converted into tyrosine.
Phenylalanine is found in almost all protein-containing foods – meat, milk, legumes, cereals. In PKU patients, Phe accumulates in the blood. If blood levels permanently exceed limits, it irreversibly damages the brain – especially in developing children.
The good news: through newborn screening, PKU is detected in Austria and Germany just days after birth. With consistent therapy, PKU patients can lead a completely normal, healthy life.
Inheritance: Both parents must be carriers of the mutation. PKU occurs with a 25% probability when both parents are heterozygous carriers. In Austria and Germany, PKU is diagnosed in approximately 1 in 10,000 newborns.
With diet: Phe levels in target range → Normal life ✓
Untreated PKU shows clear symptoms. Through screening it is detected early today – before any damage occurs.
Without diagnosis and treatment, these symptoms typically appear in the first months of life:
Newborn screening for PKU has been mandatory and free of charge in Austria and Germany for decades.
Result: Through early diagnosis and therapy initiation, a PKU child grows up completely normally.
Not all forms of PKU are equal – the residual activity of the PAH enzyme determines severity.
Pregnant women with PKU must maintain very strict limits to protect the unborn child.
PKU therapy is lifelong, but very manageable. It consists of three interlocking elements.
Strict reduction of natural protein intake. Special products (PKU bread, pasta, flour) replace normal foods. The Phe budget varies depending on severity.
Special amino acid preparations cover protein requirements without phenylalanine. They contain all essential amino acids as well as vitamins and minerals.
Sapropterin (Kuvan®) increases PAH activity in BH4-responsive patients. Pegvaliase (Palynziq®) is an enzyme substitution for severe classic PKU.
An overview of permitted and restricted foods in PKU.
PHE Buddy contains the complete BLS 4.0 database with 7,140+ foods incl. exact Phe values. The AI scanner recognises products by photo and calculates your remaining daily budget in real time – no more manual lookup.
This page is for general information only and does not replace medical advice. All therapy and dietary decisions in PKU should always be made together with a specialist doctor and experienced dietitian.
PHE Buddy is the first app that combines all elements of PKU daily life in one single, beautiful solution.
Take a photo → instantly see the Phe value. Our AI recognises German & Austrian labels with >95% accuracy and cross-references everything with the BLS database.
Centrally record all blood values (µmol/L), visualise trends, automatic reminders. The doctor sees the same trend – at the patient's request.
Parents accompany their child without controlling them. Shared dashboards, reminders, meal logs – for everyone caring for a PKU family member.
7,140 foods with verified Phe values from the Max Rubner Institute – directly in the app, available offline too.
Healthcare professionals receive access to trends, nutrition logs and blood values with patient consent – for better, data-driven therapy consultations.
End-to-end encrypted, European servers, no advertising, no data selling. Your health data belongs to you – full stop.
PHE Buddy closes the gap between clinic and PKU daily life. Finally see what your patients are actually eating.
Whether patient, parent, doctor or dietitian – PHE Buddy was designed for everyone in the PKU community.
Track your Phe intake, scan products with AI, follow your blood values and always keep your daily budget in view. Managing PKU has never been easier.
Accompany your child through the PKU daily routine. With the family network you share meal logs and blood values – for full transparency without pressure.
Data-driven therapy consultations instead of guesswork. With PHE Buddy you see real trend data – blood values, nutrition, PHE trend – right in the clinic.
Complete nutrition logs of your patients – accurate to the day and meal, with Phe budget utilisation. Finally the data you need for informed counselling.
Join the waitlist now and be among the first to access PHE Buddy – the smartest PKU companion ever built.
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