Intermediate
Technical
IVT
biotinidase activity
An enzyme measurement used to detect biotinidase deficiency in newborn screening.
Full Definition
Biotinidase activity measures the enzyme responsible for recycling biotin from dietary sources and endogenous proteins. Deficiency of this enzyme leads to progressive biotin depletion, causing metabolic acidosis, seizures, and developmental delays. The screening test measures enzyme activity directly from dried blood spots, with results expressed as percentage of normal activity.
Usage
Usage note: Results are typically reported as percentage of normal control activity.
In Context
- "Biotinidase activity was 15% of normal, confirming partial biotinidase deficiency." — Enzyme analysis report
- "Complete absence of biotinidase activity requires immediate biotin supplementation." — Treatment protocol
Also known as
biotinidase level
Don't confuse with
biotin level
biotinase