P299: Identification and diagnostic protocol for suspected acid sphingomyelinase deficiency in a medical genetics service in São Paulo

Niemann-Pick disease is a rare genetic disorder resulting from variants in the sphingomyelin phosphodiesterase 1 gene, which leads to acid sphingomyelinase deficiency (ASMD) and the intracellular accumulation of sphingomyelin. Reliable estimates of ASMD incidence worldwide are currently lacking. Although some estimates based on actual diagnoses place the incidence of ASMD at approximately 0.5 per 100,000 births. Early and accurate diagnosis is crucial for effective management and treatment. This study aimed to refine the identification and diagnostic protocol for ASMD within a Medical Genetics Service in São Paulo.