GLUCOSE 6 PHOSPHATASE DEFICIENCIES
\ɡlˈuːkə͡ʊs sˈɪks fˈɒsfɐtˌe͡ɪs dɪfˈɪʃənsɪz], \ɡlˈuːkəʊs sˈɪks fˈɒsfɐtˌeɪs dɪfˈɪʃənsɪz], \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_ɪ_z]\
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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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Platidiam
- An inorganic water-soluble platinum complex. After undergoing hydrolysis, it reacts DNA produce both intra interstrand crosslinks. These crosslinks appear to impair replication and transcription of DNA. The cytotoxicity cisplatin correlates with cellular arrest in G2 phase cell cycle.