Biotinidase Deficiencies
《英文msh詞典》Biotinidase Deficiencies
[入口詞] Biotinidase Deficiencies
[主題詞] Biotinidase Deficiency
[英文釋義] The late onset form of MULTIPLE CARBOXYLASE DEFICIENCY (deficiency of the activities of biotin-dependent enzymes propionyl-CoA carboxylase,methylcrotonyl-CoA carboxylase,and PYRUVATE CARBOXYLASE) due to a defect or deficiency in biotinidase which is essential for recycling BIOTIN.