A screening method for biotinidase deficiency in newborns.

Abstract

We describe a method for neonatal screening for biotinidase (EC 3.5.1.12) deficiency. Biotinidase activity is assessed colorimetrically from dried samples of whole blood spotted on the same filter papers as used in the neonatal screening for phenylketonuria. After the reaction, samples from normal infants are characteristically purple, whereas those from… (More)

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Cite this paper

@article{Heard1984ASM, title={A screening method for biotinidase deficiency in newborns.}, author={Gregory S Heard and Julie R Secor McVoy and Bethany J. Wolf}, journal={Clinical chemistry}, year={1984}, volume={30 1}, pages={125-7} }