Although these diseases were historically described in children, we now know that nearly half of the patients with inherited metabolic diseases are adults. Studying the outcomes of adult patients, identifying late-onset forms of diseases, and understanding diseases that specifically develop in adulthood offer valuable lessons for pediatricians, allowing them to improve the care and understanding of these diseases in children. Additionally, there is an important link between cellular mechanisms involved in neurodevelopment and neurodegeneration, which highlights the need to strengthen collaboration between physicians across all stages of life.
Lessons from Adult Metabolic Medicine
· 11 December 2024
In this podcast, Professor Mochel emphasizes the importance of a dialogue between pediatricians and adult physicians for the understanding and management of inherited metabolic diseases and leukodystrophies.