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 or disease: 
Holocarboxylase synthetase deficiency, β-methylcrotonyl-CoA carboxylase deficiency, propionic acidemia, pyruvate carboxylase deficiency
Reference range: 

4.0 to 15.0 nmol PABA/ mL plasma/ min

Synonyms or keywords: 
Biotinidase, Metabolic, PABA, Biotin
Units: 
nmol PABA/ mL plasma/ min
Department: 
Biochemical Sciences Department
Location: 
St Thomas' Hospital
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
Turnaround time: 
N/A
Patient instructions: 

N/A

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.

Criteria for acceptance / rejections of sample
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.
Contacts:
Inherited Metabolic Diseases Unit at St Thomas' Hospital
0207 188 9652
St Thomas' Hospital
North Wing - 4th Floor
London
SE1 7EH
For clinical advice or interpretation of results, please contact the laboratory in the first instance.
Laboratory: 
Inherited Metabolic Disease Laboratory at St Thomas'

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Last updated: 04/02/2025