What is the Biotinidase Quantitative Test?

The Biotinidase Quantitative Blood Test measures the activity of the enzyme biotinidase, which helps recycle biotin (Vitamin B7) in the body. Low enzyme activity indicates biotinidase deficiency, a genetic condition that can lead to neurological, skin, and metabolic problems if not detected early.

Who should take this test?

• Newborns as part of newborn screening programs.
• Infants with symptoms like seizures, developmental delay, or skin rash.
• Children with suspected metabolic or genetic disorders.
• Individuals with unexplained neurological symptoms.
• Doctor-advised evaluation of biotin metabolism disorders.

Preparation & Test Process

How to interpret results

The test reports the activity level of biotinidase enzyme.

Low activity indicates biotinidase deficiency, which may require prompt treatment with biotin supplementation.
Normal activity suggests proper enzyme function.

Early diagnosis is important, especially in newborns, to prevent long-term complications.

FAQs – Biotinidase Quantitative Test