BIOTINIDASE DEFICIENCY
\bˌa͡ɪə͡ʊtˈɪnɪdˌe͡ɪs dɪfˈɪʃənsi], \bˌaɪəʊtˈɪnɪdˌeɪs dɪfˈɪʃənsi], \b_ˌaɪ_əʊ_t_ˈɪ_n_ɪ_d_ˌeɪ_s d_ɪ_f_ˈɪ_ʃ_ə_n_s_i]\
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The late onset form of MULTIPLE CARBOXYLASE DEFICIENCY (deficiency of the activities of biotin-dependent enzymes propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, and PYRUVATE CARBOXYLASE) due to a defect or deficiency in biotinidase which is essential for recycling BIOTIN.
By DataStellar Co., Ltd
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