BRANCHER DEFICIENCY
\bɹˈant͡ʃə dɪfˈɪʃənsi], \bɹˈantʃə dɪfˈɪʃənsi], \b_ɹ_ˈa_n_tʃ_ə d_ɪ_f_ˈɪ_ʃ_ə_n_s_i]\
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An autosomal recessive metabolic disorder due to a deficiency in expression of branching enzyme (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal glycogen with long outer branches. Clinical features are muscle hypotonia and cirrhosis. Death from liver disease usually occurs before age 2.
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Word of the day
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.