Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 1991;14(6):923-7.
doi: 10.1007/BF01800475.

Worldwide survey of neonatal screening for biotinidase deficiency

B Wolf  1
Affiliations

Worldwide survey of neonatal screening for biotinidase deficiency

B Wolf. J Inherit Metab Dis. 1991.

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.

PubMed Disclaimer

Similar articles

See all similar articles

Cited by

See all "Cited by" articles

References

    1. Pediatrics. 1990 Apr;85(4):512-7 - PubMed
    1. J Pediatr. 1990 Jan;116(1):78-83 - PubMed
    1. Clin Chem. 1984 Jan;30(1):125-7 - PubMed
    1. Clin Chim Acta. 1983 Jul 15;131(3):273-81 - PubMed
    1. J Pediatr. 1986 Jan;108(1):40-6 - PubMed

Publication types

LinkOut - more resources