PANDA: PKU Amino Acid Evaluation

Inclusion Criteria:

Both PKU and Non-PKU comparison subjects:

1. Age ≥ 2 and ≤ 12 years

2. Willing and able to provide informed consent by parents or legal representatives (and assent if required by local law/regulations)

3. One subject per family

PKU subjects specific inclusion criteria:

4. PKU subjects identified by newborn screening and started low Phe diet before 1 month age

5. Usage of at least two Phe-free protein substitutes on a daily basis for at least 26 consecutive weeks up to Visit 1

6. Average Phe-level ≤360 µmol/L based on at least two blood Phe values from the past 12 months up to Visit 1

Non-PKU comparison subjects specific inclusion criteria:

7. Same age (±3 years) and sex as an included PKU subject

Exclusion Criteria:

Both PKU and Non-PKU comparison subjects:

1. Current psychiatric disorders

2. Severe hepatic, thyroid or renal dysfunction

3. Acute illnesses like fever, flu, diarrhea, or vomiting (subjects should be symptom free for a week prior to V1)

4. Serious conditions (e.g. cancer, hydrocephalus, fatal heart disease)

5. Participation in any other clinical intervention studies involving test products concomitantly or within six weeks prior to entry into the study

PKU specific exclusion criteria:

6. Use of BH4, or drugs that may interfere with main outcomes

Non-PKU comparison subjects specific exclusion criteria:

7. PKU diagnosis or any other diagnosed disorder of amino or organic acid metabolism