Biotinidase, plasma
Clinical Background:
Biotinidase is measured in plasma for the diagnosis of biotinidase deficiency, a rare autosomal recessive disorder of biotin recycling and utilisation of dietary protein-bound biotin.
Clinical feat...
Biotinidase is measured in plasma for the diagnosis of biotinidase deficiency, a rare autosomal recessive disorder of biotin recycling and utilisation of dietary protein-bound biotin.
Clinical features of the disorder include lethargy, muscular hypotonia, seizures and ataxia. Patients may also have developmental delay, hearing loss, conjunctivitis, visual problems and skin rash. Symptoms may develop gradually with periods of remission and are usually reversed on treatment with biotin.
Biotinidase deficiency may be suspected following identification of secondary abnormalities on urine organic acids and blood spot acylcarnitines.
Treatment with biotin does not affect the result of plasma biotinidase analysis.
Test Details
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Discipline:
Biochemistry
Biochemistry
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Specimen Container Adult:
Lithium heparin plasma or EDTA plasma
Lithium heparin plasma or EDTA plasma
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Specimen Container Paediatric:
Lithium heparin plasma or EDTA plasma
Lithium heparin plasma or EDTA plasma
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Minimum Volume Adult:
2 mL blood
2 mL blood
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Minimum Volume Paediatric:
250 uL blood
250 uL blood
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Transport Requirements:
Ward: send the sample at ambient temperature. Sample should be separated on receipt and plasma frozen.
External hospitals: send plasma frozen
Ward: send the sample at ambient temperature. Sample should be separated on receipt and plasma frozen.
External hospitals: send plasma frozen
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Interpretation:
Biotinidase activity below the reference range may be due to sample degradation if the storage and transport requirements are not followed.
Very low plasma biotinidase (< 0.4 nmol/ml/min) indicates...
Read MoreBiotinidase activity below the reference range may be due to sample degradation if the storage and transport requirements are not followed.
Very low plasma biotinidase (< 0.4 nmol/ml/min) indicates profound biotinidase deficiency.
Borderline results may be due to partial biotinidase deficiency.
Abnormal results should be confirmed on a repeat sample; urine organic acids and blood spot acylcarnitines may be helpful in interpreting results.
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Reference Ranges:
1.9 – 5.1 nmol/ml/min
1.9 – 5.1 nmol/ml/min
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Routine Contact Name:
Duty Biochemist
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Routine Telephone:
Freeman: 0191 244 8889
RVI: 0191 282 9719
Freeman: 0191 244 8889
RVI: 0191 282 9719
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Routine Email:
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Specialist Test:
Yes
Yes
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Specialist Contact Name:
Metabolic Clinical Scientist
Metabolic Clinical Scientist
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Specialist Telephone:
0191 282 9685 (Consultant Clinical Scientist)
0191 282 0334 (Metabolic Laboratory)
0191 282 9685 (Consultant Clinical Scientist)
0191 282 0334 (Metabolic Laboratory)
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Specialist Email: