Biotinidase Deficiency

**Definition:** 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.

**Tree numbers:** - C16.320.565.100.620.100 - C16.320.565.202.720.100 - C18.452.648.100.620.100 - C18.452.648.202.720.100

**Synonyms:** - Deficiency, Biotinidase - Deficiency, Multiple Carboxylase, Late-Onset - Late-Onset Biotin-Responsive Multiple Carboxylase Deficiency - Carboxylase Deficiency, Multiple, Late-Onset - Multiple Carboxylase Deficiency, Late-Onset - BTD Deficiency - Late-Onset Multiple Carboxylase Deficiency