Biotinidase

General Information

Biotinidase deficiency is an inherited metabolic disorder of biotin (vitamin B) recycling that leads to multiple carboxylase deficiencies

The measurement of serum/plasma biotinidase activity is used to detect the metabolic disorder biotinidase deficiency. The biotinidase enzyme is essential for the recycling of dietary biotin in the body, and consequently in patients with biotinidase deficiency, biotin becomes depleted.

Since biotin is an important co-factor for the carboxylase enzymes, biotinidase deficiency leads to multiple, or ‘combined’ carboxylase deficiency. The clinical presentation of the disorder is characterised by floppiness, alopecia and skin lesions however it can be easily and successfully treated by giving the patient biotin supplements.