Type C Niemann-Pick disease: clinical and biochemical studies on 6 cases.
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.
Omura
K
K
Division of Inherited Metabolic Disease, National Institute of Neuroscience, Tokyo, Japan.
Suzuki
Y
Y
Norose
N
N
Sato
M
M
Maruyama
K
K
Koeda
T
T
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
D002784:Cholesterol; D013108:Sphingomyelin Phosphodiesterase; D001617:beta-Glucosidase; D001616:beta-Galactosidase; D005966:Glucuronidase; D001619:beta-N-Acetylhexosaminidases