Niemann-Pick disease, NPC1-related, cattle

A lysosomal storage disease characterised by impaired unesterified cholesterol and sphingomyelin transport and metabolism, resulting in the accumulation of un-esterified cholesterol and glycosphingolipids within late endosomes and lysosomes that occurs in cattle due to a mutation in the NPC1 gene. Affected animals present with hepatosplenomegaly, neurological degeneration and premature death.

Also known as: Niemann-Pick disease, type C1, cattle

0 clinical trials for this condition and its sub-types.