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Biotinidase Enzyme Activity

Blood
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Report in 12Hrs

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At Home

nofastingrequire

No Fasting Required

Details

It is most commonly used to detect biotinidase deficiency, a rare but serious inherited metabolic disorder

₹280₹605

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Biotinidase Enzyme Activity Test

  • Why is it done?
    • Measures the activity level of biotinidase enzyme, which is responsible for recycling biotin (vitamin B7) in the body
    • Screens newborns for biotinidase deficiency, a rare but treatable metabolic disorder
    • Detects partial (Type II) and profound (Type I) biotinidase deficiency
    • Part of routine newborn screening programs in most developed countries
    • Typically performed within 24-48 hours after birth using a blood sample from a heel prick
    • Used to prevent neurological complications and developmental delays associated with untreated biotinidase deficiency
  • Normal Range
    • Normal (Sufficient Activity): >10 nmol/min/mL (nanomoles per minute per milliliter) of serum or ≥3.0 U/mL (units per milliliter)
    • Partial Deficiency (Type II): 1-10 nmol/min/mL; enzyme activity is reduced but not absent
    • Profound Deficiency (Type I): <1 nmol/min/mL; enzyme activity is severely reduced or absent
    • Units of Measurement: nmol/min/mL (nanomoles per minute per milliliter) or U/mL
    • Interpretation: Normal results indicate sufficient enzyme activity for proper biotin metabolism. Reduced activity may indicate biotinidase deficiency requiring treatment with biotin supplementation
    • Reference Values May Vary: Specific cutoff values differ between laboratories; consult your laboratory's reference range
  • Interpretation
    • Normal Result (>10 nmol/min/mL): Adequate biotinidase activity is present; no deficiency detected; no further action typically needed
    • Partial Biotinidase Deficiency (Type II, 1-10 nmol/min/mL): Reduced enzyme activity; biotin recycling is compromised; requires lifelong biotin supplementation (5-10 mg daily); regular monitoring for symptoms; lower risk of complications than Type I
    • Profound Biotinidase Deficiency (Type I, <1 nmol/min/mL): Severely reduced or absent enzyme activity; significant biotin recycling impairment; requires high-dose biotin supplementation (10-20 mg daily); risk of serious neurological complications if untreated
    • Borderline Results: Values near cutoff thresholds may require repeat testing or confirmation with additional diagnostic methods
    • Factors Affecting Results: Age (neonatal period vs. later life), biotin supplementation, sample handling, timing of collection, laboratory methodology
    • Clinical Significance of Low Activity: Impaired biotin recycling leads to biotin deficiency; without treatment, can cause seizures, hypotonia, developmental delays, alopecia, dermatitis, and hearing loss
    • Early Detection Importance: Newborn screening allows early intervention; biotin supplementation started before symptoms appear prevents neurological damage and ensures normal development
  • Associated Organs
    • Primary Organ Systems Involved: Central and peripheral nervous system, skin, hair follicles, immune system
    • Condition Associated with Abnormal Results - Biotinidase Deficiency: Autosomal recessive metabolic disorder affecting biotin recycling
    • Neurological Complications (if untreated): Seizures, hypotonia, developmental delays, poor muscle tone, ataxia, nystagmus
    • Dermatological Manifestations: Alopecia (hair loss), seborrheic dermatitis, skin rashes, eczema
    • Auditory System: Sensorineural hearing loss may develop
    • Immune System Impact: Impaired immune function and increased susceptibility to infections
    • Vision: Corneal involvement and visual disturbances may occur in untreated cases
    • Long-term Risks if Untreated: Permanent neurological disability, intellectual disability, hearing loss, visual impairment, multiple episodes of metabolic crisis
    • Prognosis with Early Treatment: Excellent when biotin supplementation begins before symptom onset; prevents all major complications and allows normal development
  • Follow-up Tests
    • Confirmatory Testing - Repeat Biotinidase Activity Test: Performed if initial screen is abnormal or borderline; helps confirm diagnosis and determine deficiency type
    • Genetic Testing: Sequencing of the BTD gene to identify specific mutations; confirms genetic biotinidase deficiency and helps determine inheritance pattern
    • Serum Biotin Levels: Measures biotin concentration; low levels support deficiency diagnosis; used to monitor supplementation effectiveness
    • Urinary Biotin Metabolites: Detects abnormal biotin metabolism patterns; elevated biotin metabolites in urine suggest deficiency
    • Neurological Assessment: Neurological examination and developmental screening; electroencephalography (EEG) if seizures suspected
    • Audiological Evaluation: Hearing assessment; newborn hearing screening; repeated testing to monitor for hearing loss development
    • Ophthalmological Examination: Visual assessment and screening for corneal involvement
    • Family Screening: Genetic counseling and biotinidase screening for parents and siblings; autosomal recessive inheritance means 25% risk for siblings
    • Ongoing Monitoring for Treated Patients: Periodic reassessment every 3-6 months; developmental assessment; clinical evaluation for breakthrough symptoms; biotin level monitoring
    • Immunological Assessment: Assessment of immune function if recurrent infections occur
  • Fasting Required?
    • Fasting Requirement: No - Fasting is NOT required for biotinidase enzyme activity testing
    • Newborn Screening (Most Common): Heel prick blood sample collected 24-48 hours after birth; no special preparation needed; infant may feed normally before test
    • Special Timing Considerations: Optimal collection is between 24-48 hours after birth; earlier collection (before 24 hours) may result in false positives; testing before 24 hours may need to be repeated
    • Blood Transfusion Consideration: If infant received blood transfusion, test results may be affected; inform healthcare provider; repeat testing may be scheduled after appropriate interval
    • Medications - No Special Restrictions: No medications need to be avoided before testing; however, biotin supplementation if already initiated may affect results
    • Parent/Caregiver Preparation: No special preparation needed; explain that a small heel prick will be performed; brief pain for infant; sample will be collected on filter paper card
    • Sample Collection Requirements: Dried blood spot on filter paper; proper saturation of filter paper spot required; avoid contamination; allow filter paper to dry completely before transport
    • For Confirmatory Testing (If Needed): Also no fasting required; venipuncture blood sample may be drawn; infant should be in calm state if possible to minimize stress

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