Wolman's disease: report of a case, with multiple studies.
We studied a case of Wolman's disease that is apparently the first to be reported in a black infant. Culture of the skin fibroblasts showed massive accumulation of neutral lipids, accompanied by decreased esterolytic activity as measured by fluorometric assay. Electrophoresis showed decreased activity of an esterase allotype, with low electrophoretic mobility.
D000302:Adrenal Cortex / Q000378:metabolism / Q000473:pathology; D000307:Adrenal Gland Diseases / Q000235:genetics / Q000473:pathology; D044383:Black People; D002114:Calcinosis / Q000473:pathology; D004591:Electrophoresis, Polyacrylamide Gel; D004950:Esterases / Q000032:analysis; D006651:Histocytochemistry; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000473:pathology; D008064:Lipidoses / Q000235:genetics; D008055:Lipids / Q000032:analysis; D008099:Liver / Q000378:metabolism; D008198:Lymph Nodes / Q000473:pathology; D012867:Skin / Q000201:enzymology; D013154:Spleen / Q000378:metabolism; D013577:Syndrome; D014973:Xanthomatosis / Q000235:genetics* / Q000378:metabolism / Q000473:pathology
D008055:Lipids; D004950:Esterases