GLOBOID CELL LEUKODYSTROPHY
\ɡlˈɒbɔ͡ɪd sˈɛl lˈuːkədˌɪstɹəfi], \ɡlˈɒbɔɪd sˈɛl lˈuːkədˌɪstɹəfi], \ɡ_l_ˈɒ_b_ɔɪ_d s_ˈɛ_l l_ˈuː_k_ə_d_ˌɪ_s_t_ɹ_ə_f_i]\
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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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Nearby Words
- globing
- globinometer
- globins
- globoid
- globoid cell leukodystrophies
- Globoid Cell Leukodystrophy
- globoid leukodystrophies
- globoid leukodystrophy
- globon
- globose
- globose, globous