GLUCOSE 6 PHOSPHATASE DEFICIENCY
\ɡlˈuːkə͡ʊs sˈɪks fˈɒsfɐtˌe͡ɪs dɪfˈɪʃənsi], \ɡlˈuːkəʊs sˈɪks fˈɒsfɐtˌeɪs dɪfˈɪʃənsi], \ɡ_l_ˈuː_k_əʊ_s s_ˈɪ_k_s f_ˈɒ_s_f_ɐ_t_ˌeɪ_s d_ɪ_f_ˈɪ_ʃ_ə_n_s_i]\
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An autosomal recessive disease in which gene expression of glucose-6-phosphatase is absent, resulting in hypoglycemia due to lack of glucose production. Accumulation of glycogen in liver and kidney leads to organomegaly, particularly massive hepatomegaly. Increased concentrations of lactic acid and hyperlipidemia appear in the plasma. Clinical gout often appears in early childhood.
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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.