Worldwide survey of neonatal screening for biotinidase deficiency

J Inherit Metab Dis. 1991;14(6):923-7. doi: 10.1007/BF01800475.


Neonatal screening for biotinidase deficiency has been conducted in 14 countries since 1984. To 31 December 1990, 8,532,617 newborns were screened. One hundred and forty-two infants with biotinidase deficiency were identified; 76 infants with profound deficiency (less than 10% of mean normal serum activity) and 66 infants with partial deficiency (10-30% of mean normal activity). The estimated incidence of profound biotinidase deficiency is 1:112,271 (1:85,000 to 1:145,000; 95% confidence limits) and the incidence of partial deficiency is 1:129,282 (1:112,700 to 1:177,000). The incidence of combined profound and partial deficiency is 1:60,089 newborns (1:49,500 to 1:73,100). The estimated frequency of the allele for biotinidase deficiency is 0.004 and an estimated 1 in 123 individuals is heterozygous for the disorder.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amidohydrolases / deficiency*
  • Biotinidase
  • Health Surveys
  • Humans
  • Infant, Newborn
  • Neonatal Screening*


  • Amidohydrolases
  • Biotinidase