Biotinidase

The Biotinidase, Serum test measures the activity of the biotinidase enzyme, which helps the body recycle biotin (vitamin B7). Biotin is essential for breaking down fats, carbohydrates, and proteins and plays a key role in normal growth and nervous system function. A deficiency of this enzyme can prevent the body from using biotin effectively, leading to metabolic and neurological complications if left untreated. This test is commonly used to evaluate suspected biotinidase deficiency and supports the early diagnosis of this inherited metabolic disorder.

Who should get this test done?

This test may be recommended for individuals who:

●     Have symptoms suggestive of biotinidase deficiency, such as developmental delay, seizures, or muscle weakness.

●     Are infants undergoing evaluation for inherited metabolic disorders.

●     Have a family history of biotinidase deficiency or related genetic conditions.

●     Show unexplained neurological or skin-related symptoms that require metabolic assessment.

●     Need confirmatory testing following an abnormal newborn screening result.

Why consider this test?

The Biotinidase, Serum test helps identify whether the body is producing enough of the biotinidase enzyme to recycle biotin efficiently. Since this enzyme is essential for several metabolic processes, detecting a deficiency can provide valuable insight into the cause of certain neurological, developmental, or metabolic symptoms. The test supports early diagnosis of an inherited condition that can often be effectively managed when recognised promptly, helping clinicians plan appropriate care and long-term follow-up.

More Information

Biotinidase is an enzyme responsible for releasing and recycling biotin from proteins, allowing the body to reuse this important vitamin. When enzyme activity is reduced, biotin cannot be recycled efficiently, affecting several enzyme systems involved in energy production and normal cellular function. Measuring biotinidase activity provides a direct assessment of this metabolic pathway and is an important part of evaluating inherited disorders related to biotin metabolism. The test contributes to a better understanding of the body’s ability to utilise this essential vitamin.

Other Names

●     Serum Biotinidase Test

●     Biotinidase Enzyme Assay

●     Biotinidase Activity Test

●     Biotinidase Deficiency Test

●     BTD Enzyme Assay

●     Biotinidase Assay, Serum