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.

Outcomes of individuals with profound and partial biotinidase deficiency ascertained by newborn screening in Michigan over 25 years

“…The incidence of combined profound and partial biotinidase deficiency in Michigan was 1 in 14,539, which was considerably higher than had been reported for the worldwide incidence of 1 in 61,000 for both profound and partial biotinidase deficiency. 12 The incidence of profound biotinidase deficiency was 1 in 101,779 newborns, and the incidence of partial biotinidase deficiency was 1 in 16,533 newborns.…”

High Incidence of Biotinidase Deficiency from a Pilot Newborn Screening Study in Minas Gerais, Brazil

“…The frequency rates of BD reported in the literature are variable. Based on 36 pilot newborn screening programs conducted from January 1984 to December 1990 (Wolf and Heard 1990;Wolf 1991) in a sample of 8,532,617 newborns, the following figures were reported: profound BD, 1:112,271 live births; partial BD, 1:129,282 live births; and combined BD incidence, 1:60,089 live births. The combined incidence of BD was 1:47,486 out of 1,321,989 newborns in nine European countries (Loeber 2007).…”

An avidin-based assay for histone debiotinylase activity in human cell nuclei

“…The estimated incidence of profound biotinidase deficiency (b 10% of normal biotinidase activity) is 1 in 112,000 live births, and the incidence of partial biotinidase deficiency (b 30% of normal biotinidase activity) is 1 in 129,000 [33]. The combined incidence of profound and partial deficiency is 1 in 60,000 live births; an estimated 1 in 123 individuals is heterozygous for the disorder [33]. Mutations of the biotinidase gene have been well characterized at the molecular level [34][35][36].…”