Biotinidase Serum Test – Accurate Diagnostic Solution for Biotinidase Deficiency Detection & Biotin Metabolism Insights

Description

Biotinidase Serum Test – Accurate Diagnosis of Biotinidase Deficiency & Metabolic Insights

The Biotinidase Serum Test from Lab Tests Dubai is a specialized diagnostic tool designed to detect biotinidase deficiency, a rare but serious inherited metabolic disorder that can have lifelong consequences if left untreated. Using colorimetry methodology on a serum blood sample, this test precisely measures the activity of the biotinidase enzyme, which is essential for recycling biotin (vitamin B7)—a critical nutrient involved in energy production, nerve function, and skin health.

While rare, biotinidase deficiency can lead to severe neurological and dermatological complications, especially in infants and children. This test is vital for early diagnosis, enabling timely intervention with lifelong biotin supplementation that can prevent irreversible damage.

At Lab Tests Dubai, we provide accurate, CLIA-standard laboratory testing with full reporting—supporting clinicians, parents, and genetic specialists in delivering the best possible care.

Why You Need This Test

Biotinidase deficiency may not show symptoms at birth, but without early detection, it can progress to severe developmental and neurological issues. The Biotinidase Serum Test is essential if:

• Your child shows signs of developmental delay, seizures, or hearing loss
• There’s a family history of metabolic or genetic disorders
• Newborn screening flagged a potential enzyme deficiency
• You’re experiencing unexplained skin rashes, hair loss, or recurrent infections
• You’re a carrier or planning a pregnancy with known genetic risks

This test is not part of routine panels, so proactive testing is key. Early diagnosis means early treatment—and a normal, healthy life with simple daily biotin supplements.

Symptoms That Indicate This Test

Consider the Biotinidase Serum Test if you or your child is experiencing any of the following:

• Developmental delays or intellectual disability
• Seizures or unexplained neurological episodes
• Skin rashes, eczema, or cradle cap that won’t resolve
• Alopecia (hair loss) – including eyebrows and eyelashes
• Hearing or vision problems
• Hypotonia (low muscle tone) or balance issues (ataxia)
• Frequent fungal or bacterial infections due to weakened immunity
• Family history of biotinidase deficiency or metabolic conditions

These symptoms often appear in infancy or early childhood, but milder forms may go unnoticed until later. If any of these signs are present, testing is strongly recommended.

Natural Production: How Biotinidase Works in the Body

The biotinidase enzyme is naturally produced in the body and plays a vital role in recycling biotin (vitamin B7), a coenzyme essential for:

• Fatty acid synthesis
• Glucose production (gluconeogenesis)
• Amino acid metabolism
• Healthy skin, hair, and nerve function

When we consume biotin from food or supplements, it’s used by enzymes in metabolic pathways. After use, biotinidase frees the biotin so it can be reused. In people with genetic mutations (BTD gene), this enzyme is missing or defective—leading to biotin deficiency, even with adequate intake.

This test identifies enzyme activity levels, helping differentiate between profound, partial, or normal biotinidase function—critical for diagnosis and treatment planning.

What Happens If Untreated? Risks of Biotinidase Deficiency

Without treatment, biotinidase deficiency can lead to progressive and irreversible damage, including:

• Seizures and developmental regression
• Permanent hearing and vision loss
• Neurological deterioration (ataxia, muscle weakness)
• Severe skin infections and hair loss
• Breathing problems and coma in acute cases
• Increased risk of sudden infant death in undiagnosed cases

The good news? Biotinidase deficiency is 100% treatable with daily biotin supplements. But only if diagnosed early. The Biotinidase Serum Test is the first and most accurate step toward prevention.

How to Prepare for the Test

Good news: no fasting or special preparation is required for this test. However, to ensure accurate results:

✅ Inform your doctor about any biotin supplements or medications you or your child are taking—high-dose biotin can affect results
✅ Avoid biotin megadoses (often found in hair/skin supplements) for a few days before testing, unless medically necessary
✅ For infants: No special diet changes needed—test can be done alongside other screenings

A simple blood draw is all that’s needed. Our trained phlebotomists ensure a quick and comfortable experience, especially for children.

Test Overview: Precise Enzyme Activity Measurement

The colorimetry method measures enzyme activity by detecting color changes in the serum sample, providing a quantitative assessment of biotinidase function. Due to the specialized nature of this test, results take approximately 30 days, ensuring maximum accuracy and validation.

FAQs About the Biotinidase Serum Test

Q: Can newborns be tested for biotinidase deficiency?
A: Yes. This test is often recommended after abnormal newborn screening results.

Q: Is the test covered by insurance?
A: Many health plans in the UAE cover metabolic testing—check with your provider or contact Lab Tests Dubai for assistance.

Q: Can adults be tested?
A: Absolutely. Late-onset or partial deficiency can appear in teens or adults with milder symptoms.

Q: Is the test painful?
A: It requires a standard blood draw—minimal discomfort, especially with our child-friendly staff.

Q: Can I take biotin supplements during the test?
A: Inform your doctor. High-dose biotin may mask deficiency, so temporary pause may be advised.

Q: How will I receive results?
A: A detailed digital report is sent via email within 30 days, with reference ranges and clinical notes.

Every symptom matters. Every delay counts. If you or your child is showing signs of developmental issues, seizures, hair loss, or unexplained infections, the Biotinidase Serum Test could be the key to unlocking answers—and a healthier future.