A simple method for quantification of biotinidase activity in dried blood spot and its application to screening of biotinidase deficiency

Tohoku J Exp Med. 1987 Aug;152(4):339-46. doi: 10.1620/tjem.152.339.

Abstract

A simple and reliable method for quantification of biotinidase (EC.3.5.1.12) activity in dried blood spot was devised by a modification of the colorimetric screening test developed by Heard et al. (1984). The enzyme reaction and hemoglobin denaturation were carried out in a U-bottomed microplate. An aliquot of the reaction solution was transferred to a flat-bottomed microplate. After the coupling reaction was started, the adsorbance was measured in situ by a microplate-reader. Both intra- and inter-assay coefficient of variation (CV) values were less than 10%. Biotinidase activity in dried blood spot showed a good correlation to that in serum (r = 0.912, n = 8). This method was applied in a pilot screening of 18,945 newborns in Sapporo City. No positive results have been obtained as yet.

MeSH terms

  • Adult
  • Aging / blood
  • Amidohydrolases / blood*
  • Amidohydrolases / deficiency
  • Biotinidase
  • Blood Specimen Collection / methods
  • Colorimetry / methods
  • Hemoglobins
  • Humans
  • Infant
  • Infant, Newborn
  • Infant, Premature
  • Mass Screening / methods*
  • Protein Denaturation

Substances

  • Hemoglobins
  • Amidohydrolases
  • Biotinidase