Niemann-Pick Disease Type B
Niemann-Pick Disease Type B is a rare genetic disorder caused by a deficiency in 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 lungs. Symptoms often include enlarged organs, respiratory issues, and growth delays, but individuals may have a normal lifespan.
The disease is inherited in an autosomal recessive pattern, meaning both parents must carry the gene mutation for a child to be affected. Diagnosis typically involves blood tests and imaging studies. While there is no cure, management focuses on alleviating symptoms and improving quality of life.