Lipid Metabolism, Inborn Errors
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do not use /congen & do not coord with INFANT, NEWBORN, DISEASES; coord IM with specific lipid /metab (IM); DF: LIPID METAB INBORN ERR |
Lipid Metabolism, Inborn Errors Categories.
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Hypercholesterolemia, Familial - A familial disorder characterized by increased plasma concentration of cholesterol carried in low density lipoproteins (LDL) and by a deficiency in a cell surface receptor which regulates LDL degradation and cholesterol synthesis. |
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Hyperlipidemia, Familial Combined - A disorder genetically distinct from the other inherited hyperlipidemias characterized by the type II or type IV lipoprotein pattern (the pattern may change from time to time and the lipid level may be normal at one time and abnormal at another time). |
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Hyperlipoproteinemia Type III - A rather uncommon form of familial hyperlipemia characterized by the presence of lipoproteins of abnormal composition. The main abnormal lipoproteins are called beta-VLDL and have a different apoprotein content and a higher proportion of cholesterol relative to triglyceride than normal VLDL. |
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Hyperlipoproteinemia Type V - A severe familial adult-onset hypertriglyceridemia different from that due to lipoprotein lipase deficiency. |
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Hypolipoproteinemia - The presence of abnormally low levels of lipoproteins in the serum. |
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Lipoidosis - A disturbance of lipid metabolism with abnormal deposit of lipids in the cells. (Dorland, 27th ed) |
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Lipoprotein Lipase Deficiency, Familial - A rare familial condition characterized by massive chylomicronemia and decreased levels of other lipoproteins. It is due to deficiency of lipoprotein lipase, an alkaline triglyceride hydrolase which catalyzes an important step in the extrahepatic removal of triglyceride-rich lipoproteins from the blood. |
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Xanthomatosis, Cerebrotendinous - A lipid storage disease, inherited as an autosomal recessive trait, characterized by xanthomas of the tendons, the white matter of the brain, and the lungs, and by spasticity, ataxia, pyramidal paresis, mental retardation, dementia, early cataracts, and atherosclerosis. It is associated with elevated plasma and tissue levels of cholestanol and defective bile synthesis, with the deposition of cholestanol in the central nervous system and myelin of peripheral nerves. The lesions contain cholesterol and dehydrocholesterol. (Dorland, 28th ed) |
Lipid Metabolism, Inborn Errors Definitions and Terms
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