[Disease with storage of neutral lipids (author's transl)].
Storage of cholesterol, cholesterol esters, and triglycerides with distribution in different organs is characteristical in 5 distinguishable familiary thesaurismoses. Cholesterol storage disease is due to relatively benign storage of cholesterol esters predominantly in the liver with gross enlargment of this organ. Acid lipase is lysosomes is also nearly inactive in the maligne Wolman's disease with calcification of the adrenals, hepatosplenomegalia and death during infancy by gastrointestinal complications. Very similar are other diseases without renal calcification but partly with pulmonal storage of cholesterol. In only one family another type of cholesterol lipidosis and cirrhosis together with aplasia of gall bladder, renal cysts, and hydronephrosis has been observed. Two types of pure triglyceride storage disease are described, but each of them in only few cases. Tendinous xanthomatosis by storage of cholestanol predominantly in brain with mental retardation, and xanthomatosis with beta-sitosterol but normal mental development are two rare steatoses with abnormal cholesterol-like lipids, in which xanthomatas are visible.
D002648:Child; D002675:Child, Preschool; D002777:Cholestanols / Q000378:metabolism; D002784:Cholesterol / Q000378:metabolism; D002788:Cholesterol Esters / Q000378:metabolism; D005260:Female; D006801:Humans; D007223:Infant; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis*; D008297:Male; D010641:Phenotype; D014280:Triglycerides / Q000378:metabolism
D002777:Cholestanols; D002788:Cholesterol Esters; D014280:Triglycerides; D002784:Cholesterol
Phänotyp bei Neutralfett-Speicherkrankheiten.