WORLDWIDE SURVEY OF NEONATAL SCREENING FOR BIOTINIDASE DEFICIENCY

Neonatal screening for biotinidase deficiency has been conducted in 14 countries since 1984. To 31 December 1990, 8532617 newborns were screened. One hundred and forty-two infants with biotinidase deficiency were identified; 76 infants with profound deficiency (< 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 1:112271 (1:85000 to 1:145000; 95% confidence limits) and the incidence of partial deficiency is 1:129282 (1:112700 to 1:177000). The incidence of combined profound and partial deficiency is 1:60089 newborns (1:49500 to 1:73100). The estimated frequency of the allele for biotinidase deficiency is 0.004 and an estimated 1 in 123 individuals is heterozygous for the disorder.