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. The disease is inherited in an autosomal recessive pattern, meaning that a child must inherit two copies of the mutated gene, one from each parent, to develop the condition. Unfortunately, Niemann-Pick Disease Type A is often severe and can lead to life-threatening complications, with many affected children not surviving past early childhood.