[Biotinidase deficiency. Results of neonatal screening 1985-1989 in Lower Saxony].

Abstract

During a five-year-period (1985-1989) 420,000 newborns in Lower Saxony, FRG, were screened for biotinidase deficiency using biotinyl-para-amino-benzoic-acid as substrate. Three newborns with profound biotinidase deficiency (activity 1.1%, 2.1%, 2.3% of mean normal activity level) were detected. Nine newborns had partial biotinidase deficiency (activity 17-26% of mean normal activity level), thus giving an incidence of 1:140,000 with profound, and 1:46,667 with partial biotinidase deficiency, respectively. The infants with profound biotinidase deficiency are treated with biotin (2 x 5 mg/day) from the 3rd, 6th and 8th week of life and have developed normally so far. The children with partial biotinidase deficiency are not treated but followed up closely. The necessity of newborn screening for biotinidase deficiency is stressed.

• Authors: S Schweitzer, J Sander, T Suormala, R Baumgartner, D J Byrd, J Brodehl
• Journal: Monatsschrift Kinderheilkunde : Organ der Deutschen Gesellschaft fur Kinderheilkunde (Monatsschr Kinderheilkd) Vol. 139 Issue 6 Pg. 349-54 (Jun 1991) ISSN: 0026-9298 [Print] Germany
• Vernacular Title: Der Biotinidasemangel. Ergebnisse des Neugeborenen-Screenings 1985-1989 in Niedersachsen.
• PMID: 1896047 (Publication Type: Journal Article)

Chemical References

• Amidohydrolases
• Biotinidase

Topics

• Amidohydrolases (blood, deficiency)
• Biotinidase
• Female
• Follow-Up Studies
• Genetic Carrier Screening
• Humans
• Infant, Newborn
• Male
• Multiple Carboxylase Deficiency (enzymology, genetics, prevention & control)
• Neonatal Screening
• Reference Values
• Risk Factors