Biotinidase Activity
- Description
- This test is part of the transfer of services from the WellChild laboratory at the Evelina Children's Hospital. Biotinidase activity is determined using incubation with biotinyl-PABA substrate and measurement of PABA by liquid chromatography tandem mass spectrometry (LC-MS/MS). This test is not currently included in the laboratory's UKAS scope of accreditation to ISO15189
- Clinical details
For the investigation of suspected full or partial biotinidase deficiency. Biotinidase deficiency is an easily treated disorder that leads to functional biotin deficiency and late presenting (>3 months) multiple carboxylase deficiency. Although not an exhaustive list, biotinidase deficiency can present with any of the following symptoms: metabolic acidosis; progressive neurological symptoms; seizures; skin rashes; hair loss; hearing loss; developmental delay; hypotonia; and ataxia.
- Related condition
- Reference range
4.0 to 15.0 nmol PABA/ mL plasma/ min
- Units
nmol PABA/ mL plasma/ min
- Synonyms
Biotinidase, Metabolic, PABA, Biotin
- Testing site
- Synnovis : Reference Services : Blackfriars Hub
- Laboratory
- Inherited Metabolic Disease
- Sample type and volume required
Lithium Heparin plasma. Minimum sample volume 100 µL plasma, however smaller sample volumes can be accepted on occasion. If required please contact the lab to discuss.
- Call in advance
No
- Special sample instructions
Samples that are received without a minimum of three forms of patient identifiable information will be rejected and will not be analysed.The effects of blood transfusion on biotinidase activity have not been fully established. If biotinidase activity is being requested on a transfused sample then please document details (type, date received) on the request form and if required, phone the lab to discuss.
- Storage and transport
Separate and freeze plasma immediately after collection, ideally at or below -70 °C. Samples can be transported at ambient temperature for arrival within 48 hrs, or frozen and transported on dry ice.
- Turnaround time
N/A
- Patient instructions
N/A
- Contacts
Inherited Metabolic Diseases Unit at Blackfriars Hub
Phone: 020 4591 0070
IMD Duty Biochemist: 07592 502653
Email: ClinicalScientistIMD@synnovis.co.uk
Reference Chemistry
Floor 1, Synnovis hub
Friars Bridge Court
41-43 Blackfriars Road
London
SE1 8NZ