European Journal of Pediatrics

, Volume 147, Issue 3, pp 317–318 | Cite as

Neonatal screening for biotinidase deficiency in north eastern italy

  • A. B. Burlina
  • W. G. Sherwood
  • M. V. Marchioro
  • B. Dalla Bernardina
  • D. Gaburro
Short Communications

Abstract

Biotinidase deficiency satisfies all the criteria for incorporation into neonatal mass screening programmes for inborn errors of metabolism. We report our preliminary experiences with screening of 24300 newborns during a 6 monthperiod when 1 infant with biotinidase deficiency was detected. On the basis of these results, this disorder appears to be as common as other well known metabolic disorders for which mass screening is available.

Key words

Biotinidase deficiency Neonatal mass screening 

Abbreviation

MCD

multiple carboxylase deficiency

References

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    Heard GS, Wolf B, Jefferson LG, Weissbecker KA, Nace WE, Secor McVoy JR, Napolitano A, Mitchell PL, Lambert FW, Linyear AS (1986) Neonatal screening for biotinidase deficiency. Results of a 1 year pilot study. J Pediatr 108:40–46Google Scholar
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Copyright information

© Springer-Verlag 1988

Authors and Affiliations

  • A. B. Burlina
    • 1
  • W. G. Sherwood
    • 2
  • M. V. Marchioro
    • 1
  • B. Dalla Bernardina
    • 1
  • D. Gaburro
    • 1
  1. 1.Department of Paediatrics, University of VeronaPoliclinic Borgo RomaVeronaItaly
  2. 2.Department of PaediatricsThe Hospital for Sick ChildrenTorontoCanada

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