Partial deficiency of acid lipase with storage of triglycerides and cholesterol esters in liver. Genetic variant of Wolman's disease?
D002648:Child; D002784:Cholesterol / Q000031:analogs & derivatives*; D002788:Cholesterol Esters / Q000378:metabolism*; D002855:Chromatography, Thin Layer; D005234:Fatty Liver / Q000378:metabolism; D006801:Humans; D008049:Lipase / Q000172:deficiency*; D008064:Lipidoses / Q000235:genetics; D008099:Liver / Q000378:metabolism*; D008297:Male; D013577:Syndrome; D014280:Triglycerides / Q000378:metabolism*; D014973:Xanthomatosis / Q000235:genetics* / Q000378:metabolism
D002788:Cholesterol Esters; D014280:Triglycerides; D002784:Cholesterol; D008049:Lipase