title: Type C Niemann-Pick disease: clinical and biochemical studies on 6 cases.
abstract: Clinical and biochemical studies were performed on 6 cases of type C Niemann-Pick disease. Neurological symptoms started in early infancy in 3 cases, and in childhood in the other 3 cases. However, no clear discriminations were possible with regard to neurological and general somatic manifestations between these two groups. All patients showed normal or slightly low sphingomyelinase and beta-glucosidase activities in fibroblasts, and a defect of esterification of exogenous cholesterol. The extent of these abnormalities was not correlated with the clinical course or severity of this disease.
authors.affiliation: Division of Inherited Metabolic Disease, National Institute of Neuroscience, Tokyo, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Omura
authors.forename: Y
authors.initials: Y
authors.lastname: Suzuki
authors.forename: N
authors.initials: N
authors.lastname: Norose
authors.forename: M
authors.initials: M
authors.lastname: Sato
authors.forename: K
authors.initials: K
authors.lastname: Maruyama
authors.forename: T
authors.initials: T
authors.lastname: Koeda
mesh_terms: D002648:Child; D002675:Child, Preschool; D002784:Cholesterol / Q000378:metabolism*; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D005966:Glucuronidase / Q000378:metabolism; D006801:Humans; D007223:Infant; D008297:Male; D009542:Niemann-Pick Diseases / Q000145:classification* / Q000378:metabolism; D013108:Sphingomyelin Phosphodiesterase / Q000378:metabolism; D001616:beta-Galactosidase / Q000378:metabolism; D001617:beta-Glucosidase / Q000378:metabolism; D001619:beta-N-Acetylhexosaminidases / Q000378:metabolism
chemical_list: D002784:Cholesterol; D013108:Sphingomyelin Phosphodiesterase; D001617:beta-Glucosidase; D001616:beta-Galactosidase; D005966:Glucuronidase; D001619:beta-N-Acetylhexosaminidases