Biotinidase (BIOT)


Chemical Pathology - Routine Laboratory

Clinical indications

The actions of biotinidase are to recycle biotin from the catabolism of biotin dependent enzymes and to release biotin from exogenous protein. The natural substrate is biocytin, which is a product of catabolism of biotin-dependent carboxylases. Biotinidase deficiency leads to a functional biotin deficiency and it is the cause of late onset multiple carboxylase deficiency (MCD). The symptoms of MCD can be completely resolved by treatment with large doses of biotin. Diagnosis is therefore life saving. Late onset MCD presents in the first few months of life with symptoms such as seizures, ataxia, hypotonia, hearing loss, skin rash, alopecia, developmental delay and metabolic acidosis. If untreated, coma and death may follow

Specimen requirement

0.5ml Lithium Heparin plasma

Dispatch and handling instructions

Separate and freeze serum immediately after collection. Send frozen

Turnaround time

21 days



Is it IS0 15189 accredited?