EARLY ONSET GLOBOID CELL LEUKODYSTROPHY
\ˈɜːlɪ ˈɒnsɛt ɡlˈɒbɔ͡ɪd sˈɛl lˈuːkədˌɪstɹəfi], \ˈɜːlɪ ˈɒnsɛt ɡlˈɒbɔɪd sˈɛl lˈuːkədˌɪstɹəfi], \ˈɜː_l_ɪ_ ˈɒ_n_s_ɛ_t 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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Proto Oncogene Proteins c erbB 2
- cell surface protein-tyrosine kinase that is found to be overexpressed in significant number adenocarcinomas. It has extensive homology can heterodimerize EGF EPIDERMAL GROWTH FACTOR), 3 receptor (RECEPTOR, 3) and the 4 receptor. Activation of erbB-2 receptor occurs during heterodimer formation with a ligand-bound erbB family members. EC 2.7.11.-.