Biotinidase Enzyme Activity
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It is most commonly used to detect biotinidase deficiency, a rare but serious inherited metabolic disorder
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🧪 Biotinidase Enzyme Activity Test
Parameter | Details |
|---|---|
Test Name | Biotinidase Enzyme Activity |
Sample Type | Blood (serum or dried blood spot – commonly for newborn screening) |
Fasting Required | ❌ Not required |
Organ Involved | Liver (site of synthesis), systemic metabolic function |
Reference Range | Varies by lab (typically ≥4 nmol/min/mL is considered normal) |
🧬 What is Biotinidase?
Biotinidase is an enzyme that recycles biotin (Vitamin B7) — an essential coenzyme for carboxylase enzymes involved in:
- Fatty acid synthesis
- Amino acid metabolism
- Gluconeogenesis
🧫 Purpose of the Test
This test measures how active the biotinidase enzyme is in the body. It is most commonly used to detect biotinidase deficiency, a rare but serious inherited metabolic disorder.
🩺 Clinical Uses
Use Case | Details |
|---|---|
👶 Newborn Screening | To detect congenital biotinidase deficiency before symptoms appear |
🧬 Diagnostic Confirmation | In infants/children with seizures, developmental delay, or metabolic acidosis |
👨👩👧 Carrier Testing | In families with known mutations |
⚠️ Biotinidase Deficiency: Overview
Type | Enzyme Activity | Symptoms |
|---|---|---|
Profound | <10% activity | Seizures, hypotonia, skin rash, alopecia, vision/hearing loss, metabolic crisis |
Partial | 10–30% activity | May be asymptomatic or have symptoms under stress/infection |
If untreated, it can lead to neurological damage, coma, and even death — but early treatment with biotin supplements can prevent complications.
🔬 Test Interpretation
Biotinidase Activity | Interpretation |
|---|---|
Normal | No deficiency |
Low/Absent | Suggests partial or profound deficiency |
Intermediate | May require genetic confirmation |
📌 Symptoms Suggestive of Biotinidase Deficiency
- Developmental delay
- Seizures
- Eczematous skin rash
- Alopecia (hair loss)
- Feeding difficulties
- Hearing or vision problems
- Metabolic acidosis (confirmed by blood gas)
🧪 Tests Often Done Alongside
Test | Purpose |
|---|---|
Plasma Ammonia & Lactate | Rule out metabolic crisis |
Arterial Blood Gas (ABG) | Assess acidosis |
Urine Organic Acids (GC-MS) | Look for accumulation of abnormal metabolites |
Genetic Testing (BTD gene) | Confirm mutation in suspected cases |
Serum Biotin Level | Rarely helpful alone; biotinidase activity is definitive |
🧠 Treatment if Deficiency is Found
- Lifelong oral biotin supplementation (5–20 mg/day)
- Prevents complications even in symptomatic children if started early
📋 Summary
Test | Biotinidase Enzyme Activity Test |
|---|---|
Main Purpose | Diagnose congenital biotinidase deficiency |
Sample Type | Blood (serum or dried blood spot) |
Symptoms if Deficient | Neurological issues, seizures, rash, metabolic acidosis |
Follow-up | Genetic testing, biotin therapy |
Newborn Screening | Mandatory in many countries/states |
How our test process works!
