DBS BIOTIDINASE, > 1 MTH

This test measures biotinidase enzyme activity to diagnose biotinidase deficiency, a rare genetic disorder affecting biotin metabolism.

This test is recommended for:

• Newborns as part of neonatal screening.
• Infants with developmental delay, seizures, or skin rashes.
• Children with unexplained neurological symptoms.

A heel prick or blood sample is analyzed using enzyme assay methods.

• Normal Biotinidase Activity: No biotinidase deficiency.
• Partial Deficiency: May require biotin supplementation.
• Severe Deficiency: Requires immediate biotin therapy.

Early detection and treatment prevent developmental delays, seizures, and other complications.