title: Worldwide survey of neonatal screening for biotinidase deficiency.
abstract: 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.
authors.affiliation: Department of Human Genetics, Medical College of Virginia/Virginia Commonwealth University, Richmond 23298.
authors.forename: B
authors.initials: B
authors.lastname: Wolf
mesh_terms: D000581:Amidohydrolases / Q000172:deficiency*; D043523:Biotinidase; D006306:Health Surveys; D006801:Humans; D007231:Infant, Newborn; D015997:Neonatal Screening
chemical_list: D000581:Amidohydrolases; D043523:Biotinidase