First Dutch PKU+ Databank (FDPD+)

 The FDPD+ is a databank containing information from patients with inherited metabolic disorders and healthy controls, with a specific focus on neuropsychological functioning and biomarkers. Cohort
The FDPD+ is a databank containing information from patients with inherited metabolic disorders and healthy controls, with a specific focus on neuropsychological functioning and biomarkers.
The FDPD+ databank contains both retrospective and prospective data. For patients with metabolic disorders, relevant data is gathered from routine clinical care and scientific studies. Furthermore, prospective data is collected through neuropsychological testing, questionnaires and biomarkers measurements in blood and urine. In addition, prospective data (including neuropsychological tests and questionnaires) is also collected from healthy controls.

The First Dutch PKU+ Databank (FDPD+) aims to:

  • Improve the quality of research in rare metabolic disorders by combining the available data from different sources; 

  • Map the progression of patients with inherited metabolic disorders over time by conducting repeated measurements throughout their lives;  

  • Quantify the effects of treatment changes through repeated assessments/longitudinal follow-up. 

Our subcohorts  

  • Patients: We include patients with inherited metabolic disorders for which one of the primary treatment options is dietary intervention. Currently, this incudes patients with phenylketonuria, tyrosinemia type I and DNAJC12 deficiency. 

 

  • Controls: We also include healthy controls: participants without an inherited metabolic disorder. 

 

  • Participants  

    • All patients with an inherited metabolic disorder for which dietary intervention is one of the primary treatment options. 

    • Healthy controls without an underlying disorder which interferes with their ability to conduct neuropsychological testing 

  • Neuropsychological testing results, evaluating: 

    • Motor skills 
    • Sustained attention 
    • Inhibition 
    • Working memory 
    • Social information processing 
    • Cognitive flexibility 
    • Gambling behaviour 

    Questionnaires evaluating: 

    • Social functioning 
    • Mental health and behavioural issues 
    • Quality of life 
    • Executive functioning 
    • Sleep 
    • Productivity 
    • Patient experiences and outcomes (only for patients) 
    • Satisfaction to treatment (only for patients) 
    • Socioeconomic status 

    Biomarkers in plasma (only for patients), including: 

    • Routine markers for the metabolic disorder 
    • Amino acids 
    • Indolamines 
    • Catecholamines 
    • Metanephrines 
    • Trace amines 
    • Neurofilaments light chain 

    Biomarkers in urine (only for patients), including: 

    • Routine markers 
    • Indolamines 
    • Catecholamines 
    • Metanephrines 

  • For more details about participation, visit the FDPD: First Dutch PKU + Database webpage (in Dutch).

  • Publications will be added as the database is used for research. A list will be made available here.

Discover our research

cohort symposium

UMCG Cohort Symposium 2026
News

Successful First Symposium for Transplantlines Patients
News
Oogarts oogmeting patient

Large grant awarded for future-proof Primary Care
Relevance

How our research benefits to society

Research on rare inherited diseases is often complicated by small sample sizes. The FDPD+ databank provides a unique opportunity to maximize the value of existing and prospectively collected data, thereby improving knowledge and advancing research in this field.