describe the characteristics of niemann pick disease and signs and symptoms and the types
caused by dysfunctional metabolism of sphingomlipids due to malfunctional amounts of acid sphingomyelinase (ASM) enzyme which is found in the lysosomes of cells. Having a malfunction in ASM storage may cause cell death
there are three types NPA, NPB, and NPC
- lipid accumulation in the brain, spleen, liver
- loss of muscle tone
- brain degeneration
- ataxia (lack of muscle control in voluntary movement)
- enlargment of spleen and liver due to overworking