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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

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. Last edited on 03/05/2020 10:54:18. Published By Robert Barski on 03/05/2019 10:54:18.