Nutritional and Metabolic Diseases Research

At Unidade Local De Saúde De Santa Maria, E.P.E., the Pediatria department is involved in clinical research focused on Nutritional and Metabolic Diseases, with a strong emphasis on rare inherited conditions affecting metabolism.

• Studies centered on Arginase 1 deficiency (ARG1-D), a rare metabolic disorder that can disrupt the body’s ability to process arginine.
• Research evaluating a new therapy for young children, with attention to how treatment may influence plasma arginine concentrations.
• Pediatric trials designed to better understand treatment safety and potential clinical benefit in very early childhood.

This area of research at the Lisbon site supports efforts to improve care for children with rare metabolic diseases by testing whether emerging treatments can help manage the underlying biochemical imbalance.