LIBRO + ANEXOS ERRORES INNATOS DEL METABOLISMO

Libro Blanco de las ACES Pediátricas 2024 44 ❚ 6 Paediatric Inherited Metabolic Medicine Introductory Statement Introductory Statement A Metabolic Paediatrician is a doctor providing care for children, young people and families who have inherited disorders that affect the body’s normal biochemical reactions. There are many rare metabolic disorders that can affect the function of any organ system and can present at any age. They have detailed knowledge of normal human biochemistry and the impact of metabolic diseases and use this knowledge in the diagnostic process (including identifying novel disorders) and in planning management strategies. They strive to improve the early recognition and diagnosis of metabolic diseases, including through newborn screening. Metabolic Paediatricians work closely with laboratory scientists, metabolic dietitians, pharmacist specialists and nursing teams. They are research-active and keep up to date with the rapid and innovative developments in therapeutics for metabolic disorders. They are advocates for their patients, actively engaging in developing and commissioning high-quality services and evolving therapies.