Biotinidase Quantitative Serum

This test determines the level of biotinidase enzyme in your blood. Biotinidase supports essential bodily functions by metabolizing biotin. Detecting low levels helps to diagnose biotinidase deficiency, a condition leading to impaired biotin recycling and subsequent deficiency symptoms.

This test is done primarily:

• To diagnose biotinidase deficiency
• To confirm metabolic disorders or inborn errors related to biotin metabolism
• To guide treatment decisions based on enzyme levels
• To help prevent complications associated with biotin deficiency

This test is typically recommended if you:

• Show symptoms of biotinidase deficiency like skin rash, hair loss, and neurological issues
• Have a family history of metabolic disorders
• Require assessment for a possible inborn error of metabolism related to biotin
• Need to monitor the effectiveness of therapy for these conditions

• Abnormal results could indicate Biotinidase deficiency or metabolic disorders affecting biotin metabolism.
• Discuss results with your doctor for further evaluation and appropriate management.

When you undergo this test:

• 4 ml of heparin plasma will be collected.
• The sample will be analyzed using colorimetry.
• Fasting before the test is recommended but not mandatory.

Before the test, ensure you:

• Provide clinical history including metabolic disorder symptoms.
• Consider fasting based on your physician’s advice.
• Discontinue amino acid supplements or medications per your doctor’s recommendations.

Consult your healthcare provider for specific requirements.

Alongside this test, other relevant investigations may include:

• Amino Acids Analysis: Determines levels of specific amino acids in your blood.
• Newborn Screening Tests: For early detection of metabolic disorders affecting biotin metabolism.

Quantitative BiTD

Biotinidase deficiency is a genetic condition impairing the body's ability to recycle biotin from food sources efficiently. This leads to a lack of available biotin, causing symptoms like hair loss, skin rash, seizures, and developmental delays. Early diagnosis through testing can help manage this condition effectively.