Serviço de Neurologia Pediátrica, Hospital Dona Estefânia, Centro Hospitalar Universitário de Lisboa Central, Lisboa
- Advanced Course on Rare Diseases and Degeneration – Nova Medical School - Lisboa, 10-14 Maio 2021
Lysosomal storage disorders (LSDs) are a family of over 70 inherited metabolic disorders that typically present in infancy or childhood. In this presentation we briefly review the main clinical aspects of this group of disorders, the experience in our Reference Centre in CHULC. In the end, we focus on the still incomplete knowledge of how lysosomal dysfunction triggers the complex cellular pathogenic cascades causing cell dysfunction and cell death.
Palavras Chave: Lysosomal storage disorders; neurodegeneration