Disorder - Niemann-Pick disease, type C

Organ Systems Involved
Nervous/sensory

Alternative disorders described within LIDA

Niemann-Pick disease, type A; Niemann-Pick disease, type B

Alternative Names
Neurovisceral lysosomal storage disorder; Sphingomyelinase deficiency

Presenting Signs

Neimann-Pick disease type C in cats is a lysosomal storage disease. This means that fatty substances (lipids) accumulate in cells, because an enzyme needed to eliminate these products is deficient. The accumulation of lipid causes cell function to be impaired.

This disease causes progressive nervous signs, and enlargement of the liver and spleen in cats. The first signs occur as young as eight to twelve weeks of age. These early signs are due to abnormal function of the cerebellum, a part of the brain involved in coordinating fine movements. Affected kittens develop tremors and a stiff way of walking, which is uncoordinated and over-stepping. The symptoms progress and affected cats die by eight to ten months of age.

PubMed References
Niemann-Pick disease, type C

Contributor
Doris Cho