The Leeds Teaching Hospitals NHS Trust



Biotin is a vitamin and is an essential cofactor for the synthesis of a number of carboxylase enzymes. Biotinidase is an enzyme involved in the processing of biotin (recycling endogenous biotin and releasing dietary biotin where it is bound to protein). A defect in biotinidase causes biotin deficiency and subsequently leads to multiple carboxylase deficiency (MCD) which can provoke life threatening metabolic derrangements.

Common clinical features of biotinidase deficiency include: metabolic acidosis, progressive neurological symptoms, hypotonia, ataxia, seizures, intellectual disability, skin rashes, hair loss, immune deficiency.

Tube Serum Gel
ID 29929
Availability Weekdays
Turn Around 37 days
Send to Transport: Send frozen.

Specialist Laboratory Medicine
Block 46
St James hospital
Beckett Street
Collection Con Minimum volume: 0.5 mL

Instructions for lab: Separate serum into 2 mL screw top and freeze at -20°C ASAP on receipt. Biotinidase levels fall by 35% per day on unfrozen samples. If samples have been referred from external hospitals please write on request card if sample arrived frozen or not frozen.

Send frozen to Block 46. If storage required (overnight or over the weekend) store in freezer (-20°C). Please note serum sample preferred but lithium heparin samples are acceptable.
Frequency Weekly
Sample REQ Serum. Biotinidase is an unstable enzyme. Please send sample ASAP to the lab.
Ref. Range Notes 4.4 - 12
Units nmol/min/mL serum
Telepath Serum biotinidase: BIOT1J
ICE Codes Serum biotinidase: JBIOT