Module 3: Metabolic diseases

"Metabolism - Sphingolipids and glycogen storage disorders"

Inborn errors of metabolism (IEM) are prototypical rare diseases. Progress has been made in the care of patients with many IEM, often allowing patients to reach adulthood. The future success of both care and research in IEMs will depend on a smooth transition, continuity, and collaboration between paediatric and adult medicine.

This project is primarily focused on glycogen storage diseases (GSD) and hereditary sensory and autonomous neuropathy type 1 (HSAN1). The pathophysiology of these diseases encompasses lipid, carbohydrate and amino acid metabolism, thus providing an excellent model to better understand the complexity and interconnectivity of metabolic pathways.

The major aims of this module are to establish comprehensive registries of GSD and HSAN1 patients, to evaluate novel therapies, to understand the pathogenesis of organ manifestations, as well as the regulation of carbohydrate and sphingolipid metabolism. In an effort to better assess quality of life of patients with IEMs, a questionnaire is being developed for patients with intoxication type metabolic diseases.