COMBINED CARBOXYLASE DEFICIENCIES
\kəmbˈa͡ɪnd kˈɑːbəksˌɪle͡ɪs dɪfˈɪʃənsɪz], \kəmbˈaɪnd kˈɑːbəksˌɪleɪs dɪfˈɪʃənsɪz], \k_ə_m_b_ˈaɪ_n_d k_ˈɑː_b_ə_k_s_ˌɪ_l_eɪ_s d_ɪ_f_ˈɪ_ʃ_ə_n_s_ɪ_z]\
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A deficiency in the activities of biotin-dependent enzymes (propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, and PYRUVATE CARBOXYLASE) due to one of two defects in BIOTIN metabolism. The neonatal form is due to HOLOCARBOXYLASE SYNTHETASE DEFICIENCY. The late-onset form is due to BIOTINIDASE DEFICIENCY.
By DataStellar Co., Ltd
