CEREBROTENDINOUS XANTHOMATOSIS
\səɹiːbɹˈə͡ʊtəndˌɪnəs zˌanθəmɐtˈə͡ʊsɪs], \səɹiːbɹˈəʊtəndˌɪnəs zˌanθəmɐtˈəʊsɪs], \s_ə_ɹ_iː_b_ɹ_ˈəʊ_t_ə_n_d_ˌɪ_n_ə_s z_ˌa_n_θ_ə_m_ɐ_t_ˈəʊ_s_ɪ_s]\
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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)
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Word of the day
Procollagen Proline Dioxygenase
- mixed-function oxygenase that catalyzes hydroxylation prolyl-glycyl-containing-peptide, usually in protocollagen, hydroxyprolylglycyl-peptide. The enzyme utilizes molecular oxygen with a concomitant oxidative decarboxylation of 2-oxoglutarate to succinate. EC 1.14.11.2.