Niemann-Pick disease type A is a rare genetic disorder caused by a deficiency of the enzyme sphingomyelinase. This enzyme is essential for breaking down a fatty substance called sphingomyelin, leading to its accumulation in various organs, particularly the liver, spleen, and brain. Symptoms typically appear in infancy and may include developmental delays, difficulty swallowing, and an enlarged abdomen due to organ enlargement. The disease is inherited in an autosomal recessive pattern, meaning both parents must carry the gene mutation for a child to be affected. Unfortunately, Niemann-Pick disease type A is often severe, and affected children may not survive past early childhood. There is currently no cure, and treatment focuses on managing symptoms and providing supportive care.