[Cholesterol ester storage disease in children. Comparative biochemistry of hepatocyte and fibroblast cultures].
The results of biochemical studies in three children with cholesterol ester storage disease are reported. This rare disease (13 published cases) and the related Wolman's disease are characterised by a deficiency of acid lipase. Affected children mostly present with isolated hepatomegaly. Hepatic cells (one patient) and fibroblasts (two patients) were cultured and cholesterol accumulation measured. Hepatic cells contained more cholesterol than fibroblasts but the enzyme deficiency, assessed by the abnormal degree of esterification was the same in both cell types.
D002648:Child; D002784:Cholesterol / Q000032:analysis; D002788:Cholesterol Esters / Q000032:analysis / Q000378:metabolism*; D005260:Female; D005347:Fibroblasts / Q000378:metabolism; D006801:Humans; D008049:Lipase / Q000172:deficiency; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis / Q000378:metabolism / Q000473:pathology; D008099:Liver / Q000378:metabolism*; D008297:Male
D002788:Cholesterol Esters; D002784:Cholesterol; D008049:Lipase
Maladie de surcharge à esters du cholestérol chez l'enfant. Etude biochimique comparative de cultures d'hépatocytes et de fibroblastes.