COMBINED CARBOXYLASE DEFICIENCY
\kəmbˈa͡ɪnd kˈɑːbəksˌɪle͡ɪs dɪfˈɪʃənsi], \kəmbˈaɪnd kˈɑːbəksˌɪleɪs dɪfˈɪʃənsi], \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_i]\
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
Mustagh Range
- a mountain range in northern Kashmir; an extension of the Hindu Kush; contains 2nd highest peak
Nearby Words
- 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
- combined multiple motor and vocal tic disorder