n.羧化全酶

The deficiency of holocarboxylase synthetase can lead to multiple carboxylase deficiency.
翻译：全羧化酶合成酶的缺乏可能导致多种羧化酶缺乏症。
Holocarboxylase is an enzyme complex that requires biotin as a cofactor for its activity.
翻译：全羧化酶是一种需要生物素作为辅因子才能发挥活性的酶复合体。
Holocarboxylase repletion therapy is crucial in the treatment of biotin-responsive multiple carboxylase deficiency.
翻译：全羧化酶补充疗法在治疗对生物素有反应的多种羧化酶缺乏症中至关重要。
Holocarboxylase synthetase catalyzes the binding of biotin to various carboxylases.
翻译：全羧化酶合成酶催化生物素与各种羧化酶的结合。
Holocarboxylase enzymes play a pivotal role in fatty acid metabolism and gluconeogenesis.
翻译：全羧化酶在脂肪酸代谢和糖原异生过程中扮演着关键角色。
Inborn errors in holocarboxylase synthesis may present with symptoms like hypotonia and seizures.
翻译：先天性全羧化酶合成缺陷可能会出现肌张力低下和惊厥等症状。
A clinical diagnosis of holocarboxylase deficiency involves assessing the patient's response to biotin supplementation.
翻译：全羧化酶缺乏症的临床诊断包括评估患者对生物素补充剂的反应。
Dietary intake of adequate amounts of biotin is necessary to maintain proper function of holocarboxylase enzymes.
翻译：摄入适量的生物素对于维持全羧化酶正常功能是必要的。
Neonatal screening programs often include testing for holocarboxylase synthetase deficiency.
翻译：新生儿筛查项目通常会包含全羧化酶合成酶缺陷的检测。
Genetic mutations affecting holocarboxylase synthetase gene expression are associated with biotin-responsive disorders.
翻译：影响全羧化酶合成酶基因表达的遗传突变与对生物素有反应的疾病有关。