GLOBOID CELL LEUKODYSTROPHIES
\ɡlˈɒbɔ͡ɪd sˈɛl lˈuːkədˌɪstɹəfɪz], \ɡlˈɒbɔɪd sˈɛl lˈuːkədˌɪstɹəfɪz], \ɡ_l_ˈɒ_b_ɔɪ_d s_ˈɛ_l l_ˈuː_k_ə_d_ˌɪ_s_t_ɹ_ə_f_ɪ_z]\
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An autosomal recessive inherited sphingolipidosis caused by a deficiency of GALACTOSYLCERAMIDASE leading to an accumulation of PSYCHOSINE in LYSOSOMES of the BRAIN; PERIPHERAL NERVES; LIVER; KIDNEY; and LEUKOCYTES. In the nervous sytem there is prominent central and peripheral demyelination. The infantile form presents at age 4-6 months with psychomotor retardation, MUSCLE SPASTICITY, and tonic spasms induced by minor stimuli. Death occurs within two years. Later onset forms of this disease are characterized by a less fulminant course. (From Menkes, Textbook of Child Neurology, 5th ed, pp195-7)
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Word of the day
Dopamine Acetyltransferase
- An enzyme that catalyzes the of groups from acetyl-CoA to arylamines. They have wide specificity for aromatic amines, particularly serotonin, and can also catalyze acetyl transfer between arylamines without CoA. EC 2.3.1.5.
Nearby Words
- globin zinc insulin
- globing
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- globoid leukodystrophies
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- globon
- globose