Francjan van Spronsen

Francjan van Spronsen is a full Professor in Pediatrics and a pediatrician specializing in Inherited Metabolic Diseases at the University Medical Centre Groningen (UMCG) and Beatrix Children's Hospital. He holds a leadership role as head of the Division of Metabolic Diseases. His research focuses on metabolic disorders such as Phenylketonuria (PKU) and Tyrosinemia Type I, emphasizing metabolic control, neurocognitive outcomes, and treatment innovations. He has authored over 100 publications in these areas.

• Education: MD from University of Groningen, PhD (1996) on PKU, specialization in Pediatrics (1997).
• Roles: Chair of Dutch Advisory Committee for Neonatal Screening, European Society of PKU Scientific Advisory Board, and multiple international advisory roles.

Research interests include newborn screening protocols, metabolic pathway analysis, and long-term management strategies for amino acid disorders. He collaborates globally on guidelines for PKU and Tyrosinemia, including European treatment protocols.

Key contributions: Over 150 articles on metabolic diseases, leadership in newborn screening evaluation, and advocacy for patient-centered care. Active in clinical trials for therapies like sapropterin and enzyme replacement.