From newborn screening to advances in genetics and the advent of targeted treatments, the care of metabolic diseases in children has profoundly evolved. On the occasion of HUDERF's 40th anniversary, we look back at pioneering expertise where early diagnosis, therapeutic nutrition, and medical innovations have progressively changed the life prospects of young patients.
A few drops of blood taken in the first days of life can now reveal a rare disease in a newborn who appears to be in perfect health. This simple gesture, familiar to generations of parents, tells a major story of pediatric transformation: detecting certain diseases before the first symptoms and intervening before the onset of sometimes irreversible damage.
At the Queen Fabiola Children's University Hospital (HUDERF), the history of managing metabolic diseases is intimately linked to this revolution. It began long before the hospital opened in 1986. Over the decades, progress in biochemistry, therapeutic nutrition, and genetics has profoundly transformed the diagnosis and treatment of diseases that were once difficult to identify and sometimes impossible to treat.
In the aftermath of World War II, university pediatrics gradually structured itself in Belgium. In Brussels, Prof. Robert Dubois championed a then-modern concept of child medicine: a discipline in its own right, combining care, teaching, and research. At the Université libre de Bruxelles, this ambition led to the creation of the Pediatric Laboratory, later developed by Prof. Henri Vis, who focused on metabolic and genetic diseases. This dual expertise in nutrition and metabolism laid the foundation for a specialty that would fully flourish at the Children's Hospital.
In the early 1960s, American microbiologist Robert Guthrie developed a method to screen for phenylketonuria using a few drops of dried blood on filter paper. Detected early, the disease can be managed with a specially adapted diet. In Belgium, Prof. Henri Vis was a pioneer. Neonatal screening began in 1966 and was formalized by royal decree in 1974. Under his impetus, the ULB Pediatric Laboratory became a leading Belgian center for infant metabolic disease screening.
“"The diseases already existed; it's our ability to detect them that has profoundly changed."
When HUDERF opened its doors in 1986, this scientific history merged with an unprecedented hospital project: a complete university hospital dedicated entirely to children and adolescents. This concentration of expertise transformed working methods, allowing pediatricians, biologists, dietitians, geneticists, neurologists, and other specialists to collaborate around a child with a metabolic disorder. Prof. Henri Vis embodied the continuity, while Prof. André Kahn strengthened links between clinical practice, research, and teaching, and Prof. Philippe Goyens advanced pediatric gastroenterology, nutrition, and metabolism.
At HUDERF, nutrition is an essential component of care. A study published in 2006 by a team including Prof. Philippe Goyens and Dr. Corinne De Laet highlighted the need for nutritional screening and coordinated management.
“"In some metabolic diseases, nutrition plays a role as important as medication."
From the 1990s and especially the 2000s, tandem mass spectrometry and molecular genetics revolutionized diagnosis. It became possible to identify the affected metabolic pathway and sometimes the responsible gene with increasing precision, ending years of diagnostic odyssey for many families. Treatments also evolved with enzymatic therapies, drugs targeting metabolic pathways, and gene therapies.
Thanks to these advances, many children with rare metabolic diseases now reach adulthood. This medical success highlights a new challenge: organizing the transition to adult medicine, ensuring continuity of expertise while fostering the young person's autonomy.
In 2026, the manually perforated cards of early screenings seem from another world. Mass spectrometry, genetics, enzyme treatments, and new therapies have transformed the specialty. Yet, the pioneers' principle remains: detect as early as possible, understand the disease mechanism, and intervene before irreversible consequences. This expertise continues today within H.U.B, with collaborations between the Children's Hospital, Erasme Hospital, and laboratories.
