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]\
Sort: Oldest first
-
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
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.
Nearby Words
- combined (external and internal) version
- combined anesthetics
- combined antibiotics
- combined antineoplastic agent
- combined antineoplastic agents
- Combined Carboxylase Deficiencies
- combined carboxylase deficiency
- combined examination
- combined experience table
- combined modality therapies
- combined modality therapy