GANGLIOSIDE STORAGE DISEASES
\ɡˈaŋɡlɪˌɒsa͡ɪd stˈɔːɹɪd͡ʒ dɪzˈiːzɪz], \ɡˈaŋɡlɪˌɒsaɪd stˈɔːɹɪdʒ dɪzˈiːzɪz], \ɡ_ˈa_ŋ_ɡ_l_ɪ__ˌɒ_s_aɪ_d s_t_ˈɔː_ɹ_ɪ_dʒ d_ɪ_z_ˈiː_z_ɪ_z]\
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A group of often fatal inherited diseases marked by the accumulation of GANGLIOSIDES in LYSOSOMES secondary to enzymatic deficiency states. Gangliosidoses include TAY- SACHS DISEASE; GANGLIOSIDOSIS GM1; GANGLIOSIDOSES GM2; and SANDHOFF DISEASE; which share the infantile or childhood onset of CENTRAL NERVOUS SYSTEM deterioration. (Menkes, Textbook of Child Neurology, 5th ed, pp89-97)
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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.