NiemannPickkór
Niemann-Pick disease, also known as Type C Gaucher disease, is a rare, inherited metabolic disorder characterized by the accumulation of sphingomyelin in various tissues of the body. It is caused by mutations in the SMPD1 gene, which encodes for the enzyme acid sphingomyelinase. This enzyme is responsible for breaking down sphingomyelin, a type of fat found in cell membranes. When the enzyme is defective, sphingomyelin accumulates, leading to the symptoms of the disease.
Niemann-Pick disease is classified into several types based on the age of onset and the severity of
The diagnosis of Niemann-Pick disease is typically made through genetic testing, which identifies mutations in the
Niemann-Pick disease is a progressive condition, and the prognosis varies depending on the type and severity