Biotinidase Enzyme Activity Test

Biotinidase enzyme activity test is a diagnostic test used to measure the activity of the biotinidase enzyme in the blood. Biotinidase is an enzyme that is responsible for releasing biotin from dietary protein and processing it for use in the body.

A deficiency in biotinidase enzyme activity can lead to biotin deficiency, which can cause a range of symptoms such as skin rash, hair loss, seizures, developmental delay, and immune system dysfunction.

The biotinidase enzyme activity test is usually performed on infants shortly after birth as part of the routine newborn screening program in many countries. It can also be performed on older children and adults if they have symptoms of biotin deficiency.

The test involves taking a small sample of blood from the patient and measuring the activity of biotinidase enzyme in the sample. The results are typically reported as enzyme activity levels in units per liter (U/L).

If the test results show low biotinidase enzyme activity, the patient may be diagnosed with biotinidase deficiency, and further testing may be done to confirm the diagnosis. Treatment typically involves high-dose biotin supplementation to correct the deficiency.