CARBOXYLASE DEFICIENCY, MULTIPLE, NEONATAL FORM
\kˈɑːbəksˌɪle͡ɪs dɪfˈɪʃənsi], \kˈɑːbəksˌɪleɪs dɪfˈɪʃənsi], \k_ˈɑː_b_ə_k_s_ˌɪ_l_eɪ_s d_ɪ_f_ˈɪ_ʃ_ə_n_s_i]\
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The neonatal form of MULTIPLE CARBOXYLASE DEFICIENCY that is caused by a defect or deficiency in holocarboxylase synthetase. HLCS is the enzyme that covalently links biotin to the biotin dependent carboxylases (propionyl-CoA-carboxylase, pyruvate carboxylase, and beta-methylcrotonyl-CoA carboxylase).
By DataStellar Co., Ltd
Word of the day
Quinones
- Hydrocarbon rings which contain two moieties position. They can be substituted in any position except at the ketone groups.
Nearby Words
- carboxyl
- carboxyl (acid) proteinases
- carboxyl and carbamoyl transferases
- carboxyl group
- carboxylase deficiency, multiple, late onset
- Carboxylase Deficiency, Multiple, Neonatal Form
- carboxylase oxygenase, 1,5 biphosphate
- carboxylase oxygenase, ribulose 1,5 biphosphate
- carboxylase, ribulose 1,5 biphosphate
- carboxylate
- carboxylesterases