Niemann-Pick disease, NPC1-related, cattle
Niemann-Pick disease, type C1, cattle
related
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.
MONDO:1010862
lysosomal storage disease, cattle
is_a