NiemannPicken
Niemann-Pick disease refers to a group of inherited metabolic disorders characterized by the abnormal accumulation of lipids (fats) within cells, leading to cellular dysfunction and a range of clinical symptoms. This condition results from deficiencies of specific enzymes necessary for lipid processing, most notably sphingomyelinase.
There are several types of Niemann-Pick disease, classified primarily as Types A, B, and C. Types A
Common symptoms include an enlarged liver and spleen, failure to thrive, developmental delays, and neurological issues
Currently, there is no cure for Niemann-Pick disease, and management focuses on supportive care to alleviate