title: Niemann-Pick disease: a genetic model in Siamese cats.
abstract: Three Siamese cats were found to have a progressive neurological disease that became obvious when they were 4 to 5 months of age. Their brains contained an excess of GM2 and GM3 gangliosides, and their livers a nine- to tenfold excess of sphingomyelin and cholesterol. A total deficiency of lysosomal (pH 5.0) sphingomyelinase was found in the leukocytes, liver, and brain of the cats, although the activity of the microsomal (pH 7.4, magnesium-dependent) sphingomyelinase was normal in brain. These cats appear to have a genetic disease identical to Niemann-Pick disease type A.
mesh_terms: D000818:Animals; D001921:Brain / Q000201:enzymology; D001923:Brain Chemistry; D002371:Cat Diseases / Q000201:enzymology / Q000235:genetics*; D002415:Cats; D004195:Disease Models, Animal; D005732:Gangliosides / Q000032:analysis; D006801:Humans; D007700:Kinetics; D008099:Liver / Q000032:analysis; D009542:Niemann-Pick Diseases / Q000201:enzymology / Q000235:genetics*; D010743:Phospholipids / Q000032:analysis; D013108:Sphingomyelin Phosphodiesterase / Q000032:analysis
chemical_list: D005732:Gangliosides; D010743:Phospholipids; D013108:Sphingomyelin Phosphodiesterase