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.
|Turn Around||37 days|
|Send to||Transport: Send frozen.
Specialist Laboratory Medicine
St James hospital
|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.
|Sample REQ||Serum. Biotinidase is an unstable enzyme. Please send sample ASAP to the lab.|
|Ref. Range Notes||4.4 - 12|
|Telepath||Serum biotinidase: BIOT1J|
|ICE Codes||Serum biotinidase: JBIOT|