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ID:459 Biotinidase
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DescriptionBiotin is a vitamin and is an essential cofactor for 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 carboylase deficiency (MCD) which can provoke life threatening metabolic derrangements.
IndicationCommon clinical features of biotinidase deficiency include: metabolic acidosis, progressive neurological symptoms, hypotonia, ataxia, seizures, intellectual disability, skin rashes, hair loss, immune deficiency.
Additional Info
Concurrent Testsna
Dietary RequirementsN/A
Interpretation

DepartmentSpecialist Laboratory Medicine
SampleBlood
TubeSerum Gel
Tube Picture
Collection ConditionsUnstable enzyme. Only send Mon-Fri and inform lab. Samples must be collected and received in the Lab on the same day. Serum sample preferred. Lithium heparin samples acceptable.
Min. Vol0.5 mL
Freq.

Ref. Range (Male)
Ref. Range (Female)
Ref. Range (Paed)
Ref. Range Notes4.4 - 12 nmol/min/mL serum
Units - Not Defined -
IP Acute TAT- Contact Laboratory
IP Routine TAT37 days
GP Acute TAT- Contact Laboratory
GP Routine TAT- Contact Laboratory
Turnround CommentNA

Originally edited by : Robert Barski. Review due on 03/05/2020 10:54:18. Published By Robert Barski on 03/05/2019 10:54:18.