Enzyme deficiency:
Niemann-Pick Disease-1
Sphingomyelinase
Accumulated
product:
Type
A - E:
Types of
Niemann-Pick Diseases:
Sphingomyelin
& cholesterol
Neuronopathic
Type
A-D:
Non-neuronopathic
Type
E:
Type
A:
Features of
types:
Acute
neuronopathic
Infants
2-4 months
Ashkenazi
Jews
Hepatosplenomegaly
Brain
damage