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Related Experiment Videos

Neonatal screening for biotinidase deficiency.

D T Forman1, D D Bankson, W E Highsmith

  • 1Division of Laboratory Medicine, University of North Carolina, Chapel Hill 27514.

Annals of Clinical and Laboratory Science
|May 11, 1992
PubMed
Summary

Juvenile-onset multiple carboxylase deficiency, caused by a lack of biotinidase activity, can be screened using simple blood tests. These assays detect biotinidase levels, aiding in early diagnosis and preventing neurological damage in infants.

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Area of Science:

  • Biochemistry
  • Pediatric Medicine
  • Enzymology

Background:

  • Children with juvenile-onset multiple carboxylase deficiency exhibit deficient biotinidase activity, leading to insufficient free biotin and severe neurological impairment.
  • Biotinidase deficiency impacts the liver and other tissues, with its absence reflected in serum levels.
  • Early detection of biotinidase deficiency is crucial to prevent serious health consequences.

Purpose of the Study:

  • To develop and evaluate convenient assays for assessing serum biotinidase activity.
  • To enable early screening for biotinidase deficiency in infants.
  • To establish reliable methods for diagnosing biotinidase-related metabolic disorders.

Main Methods:

  • A qualitative colorimetric assay using N-biotinyl-p-aminobenzoate substrate was employed for infant screening.

Related Experiment Videos

  • A kinetic assay utilizing biotinyl-p-nitroanilide (BpNA) substrate was developed and optimized.
  • Serum samples were analyzed using spectrophotometry on a Roche Cobas BIO analyzer at 37°C.

    • Main Results:

    • The qualitative assay is convenient, requires minimal sample volume (10 microliters), and shows a low incidence of false positives.
    • The kinetic assay demonstrated linearity and was compared against the colorimetric method, yielding a correlation coefficient of 0.85.
    • Lipemic sera presented challenges, leading to several false positive results in the kinetic assay.

    Conclusions:

    • Serum biotinidase assessment is a practical method for diagnosing biotinidase deficiency.
    • Both colorimetric and kinetic assays are valuable tools for screening and diagnosis.
    • Further refinement may be needed to address potential issues with lipemic samples in kinetic assays.