title: ["Hypo-alpha-lipoproteinemia" (Tangier-disease) (author's transl)].
abstract: Report on a case of Tangier disease in a girl aged 4.11 m. Clinically the tonsils were hypertrophic and of a yellow color. Their stroma contained many cholesterinesters which produced the histologic picture of foam-cell xanthomatosis. The serum contained only traces of alpha-lipoprotein. The level of Cholesterin of the HDL fraction was reduced to one twelvth of the norm. The serum of her father also showed a clearly reduced content of HDL cholesterin. In the patient herself lipolytic enzymes like lecithin-cholesterin-acyltransferase, post-heparin plasma-lipoprotein lipase and hepatic triglycerid-lipase showed normal activity.
mesh_terms: D002784:Cholesterol / Q000097:blood; D005260:Female; D006801:Humans; D007122:Immunoelectrophoresis; D007223:Infant; D008049:Lipase / Q000097:blood; D008075:Lipoproteins, HDL / Q000097:blood*; D012157:Mononuclear Phagocyte System / Q000378:metabolism; D014066:Palatine Tonsil / Q000473:pathology
chemical_list: D008075:Lipoproteins, HDL; D002784:Cholesterol; D008049:Lipase
vernacular_title: "Hypalphalipoproteinämie" (Tangiersche Krankheit)