《英文msh词典》Carboxylase Deficiency,Multiple,Neonatal Form
[同义词] Carboxylase Deficiency,Multiple,Neonatal Form
[主题词] Holocarboxylase Synthetase Deficiency
[中文释义] 羧化酶缺乏,多源性,婴儿型
[英文释义] 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).