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

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Last updated: 04/02/2025