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
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.
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:
Location:
Last updated: 04/02/2025