Biotinidase Deficiency

Synonyms

BTD Deficiencies

BTD Deficiency

Biotinidase Deficiencies

Carboxylase Deficiency, Multiple, Late-Onset

Deficiencies, BTD

Deficiencies, Biotinidase

Deficiency, BTD

Deficiency, Biotinidase

Deficiency, Multiple Carboxylase, Late-Onset

Late Onset Biotin Responsive Multiple Carboxylase Deficiency

Late Onset Multiple Carboxylase Deficiency

Late-Onset Biotin-Responsive Multiple Carboxylase Deficiency

Late-Onset Multiple Carboxylase Deficiency

Multiple Carboxylase Deficiency, Late Onset

Multiple Carboxylase Deficiency, Late-Onset

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.

See Also