Think Rare in Every Consultation: Alpha-mannosidosis (AM)

The Excellence in Pediatrics Spot The Early Signs program aims to empower frontline pediatricians and GPs with the knowledge and skills to recognize symptoms of under-diagnosed or late-diagnosed conditions. This initiative underscores the profound impact of early detection and treatment on patients' development, quality of life, and survival.

Alpha-mannosidosis (AM) is an ultra-rare genetic disorder stemming from a deficiency in the lysosomal enzyme alpha-mannosidase. The symptoms, severity, and progression of AM can differ significantly among individuals, complicating the diagnosis process and frequently causing delays. Reducing the time to diagnosis is crucial to ensure that individuals with alpha-mannosidosis and their families gain prompt access to support and specialized multidisciplinary team (MDT) care.

EIP has introduced the AM Resource Centre to address misdiagnosis and delayed treatment. This centre provides education programs from leading academics and experts to increase awareness among medical communities. It trains frontline pediatricians and GPs on when to suspect MPS, recognize its symptoms, and correctly refer patients to specialty centres. The Resource Centre promotes collaboration and interaction, offering access to vital information and educational resources.