Biomaterial Database

Cerebrotendinous xanthomatosis. 1989

V M Berginer, and G Salen, and S Shefer

Department of Neurology, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.

Cerebrotendinous xanthomatosis is a rare familial lipid storage that is caused by a defect in bile acid synthesis. As a result, large amounts of cholestanol, the 5 alpha-dihydro derivative of cholesterol, accumulate in virtually every tissue, with extra large deposits in the nervous system, xanthomas, and bile. Clinically, progressive neurologic dysfunction, tendon xanthomas, cataracts, and atherosclerosis are commonly found. Because chenodeoxycholic acid, a primary bile acid, is almost devoid from the bile, replacement therapy (750 mg per day) suppresses abnormal bile acid synthesis, reduces elevated cholestanol synthesis and plasma concentrations, and improves neurologic function in this disease.

UI	MeSH Term	Description	Entries
D010375	Pedigree	The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.	Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D001921	Brain	The part of CENTRAL NERVOUS SYSTEM that is contained within the skull (CRANIUM). Arising from the NEURAL TUBE, the embryonic brain is comprised of three major parts including PROSENCEPHALON (the forebrain); MESENCEPHALON (the midbrain); and RHOMBENCEPHALON (the hindbrain). The developed brain consists of CEREBRUM; CEREBELLUM; and other structures in the BRAIN STEM.	Encephalon
D004083	Cholestanol	A cholesterol derivative found in human feces, gallstones, eggs, and other biological matter.	Coprostanol,Dihydrocholesterol,beta-Cholestanol,5 alpha-Cholestan-3 alpha-ol,5 alpha-Cholestan-3 beta-ol,5 beta-Cholestan-3 alpha-ol,5 beta-Cholestan-3 beta-ol,Cholestan-3-ol,Cholestanol, (3alpha, 5beta)-Isomer,Coprosterol,5 alpha Cholestan 3 alpha ol,5 alpha Cholestan 3 beta ol,5 beta Cholestan 3 beta ol,Cholestan 3 ol,beta Cholestanol,beta-Cholestan-3 beta-ol, 5,beta-ol, 5 beta-Cholestan-3
D005808	Genes, Recessive	Genes that influence the PHENOTYPE only in the homozygous state.	Conditions, Recessive Genetic,Genetic Conditions, Recessive,Recessive Genetic Conditions,Condition, Recessive Genetic,Gene, Recessive,Genetic Condition, Recessive,Recessive Gene,Recessive Genes,Recessive Genetic Condition
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D001647	Bile Acids and Salts	Steroid acids and salts. The primary bile acids are derived from cholesterol in the liver and usually conjugated with glycine or taurine. The secondary bile acids are further modified by bacteria in the intestine. They play an important role in the digestion and absorption of fat. They have also been used pharmacologically, especially in the treatment of gallstones.	Bile Acid,Bile Salt,Bile Salts,Bile Acids,Acid, Bile,Acids, Bile,Salt, Bile,Salts, Bile
D015223	Wolman Disease	The severe infantile form of inherited lysosomal lipid storage diseases due to deficiency of acid lipase (STEROL ESTERASE). It is characterized by the accumulation of neutral lipids, particularly CHOLESTEROL ESTERS in leukocytes, fibroblasts, and hepatocytes. It is also known as Wolman's xanthomatosis and is an allelic variant of CHOLESTEROL ESTER STORAGE DISEASE.	Acid Cholesteryl Ester Hydrolase Deficiency, Type 2,Acid Cholesteryl Ester Hydrolase Deficiency, Wolman Type,Acid Lipase Disease,LIPA Deficiency,Lysosomal Acid Lipase Deficiency,Xanthomatosis, Familial,Xanthomatosis, Wolman's,Acid Lipase Deficiency,Cholesterol ester hydrolase deficiency,Familial Xanthomatosis,LAL Deficiency,Liposomal Acid Lipase Deficiency, Wolman Type,Wolman Disease with Hypolipoproteinemia and Acanthocytosis,Wolman's Disease,Acid Lipase Deficiencies,Acid Lipase Diseases,Deficiencies, Acid Lipase,Deficiencies, LAL,Deficiencies, LIPA,Deficiency, Acid Lipase,Deficiency, LAL,Deficiency, LIPA,Disease, Acid Lipase,Disease, Wolman,Disease, Wolman's,Diseases, Acid Lipase,Familial Xanthomatoses,LAL Deficiencies,LIPA Deficiencies,Lipase Deficiencies, Acid,Lipase Deficiency, Acid,Lipase Disease, Acid,Lipase Diseases, Acid,Wolman's Xanthomatosis,Wolmans Disease,Xanthomatoses, Familial,Xanthomatosis, Wolman,Xanthomatosis, Wolmans