title: [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.affiliation: Abteilung Pädiatrische Nieren- und Stoffwechselerkrankungen, Medizinischen Hochschule Hannover.
authors.forename: S
authors.initials: S
authors.lastname: Schweitzer
authors.forename: J
authors.initials: J
authors.lastname: Sander
authors.forename: T
authors.initials: T
authors.lastname: Suormala
authors.forename: R
authors.initials: R
authors.lastname: Baumgartner
authors.forename: D J
authors.initials: DJ
authors.lastname: Byrd
authors.forename: J
authors.initials: J
authors.lastname: Brodehl
mesh_terms: D000581:Amidohydrolases / Q000097:blood / Q000172:deficiency*; D043523:Biotinidase; D005260:Female; D005500:Follow-Up Studies; D006580:Genetic Carrier Screening; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009100:Multiple Carboxylase Deficiency / Q000201:enzymology / Q000235:genetics / Q000517:prevention & control*; D015997:Neonatal Screening; D012016:Reference Values; D012307:Risk Factors
chemical_list: D000581:Amidohydrolases; D043523:Biotinidase
vernacular_title: Der Biotinidasemangel. Ergebnisse des Neugeborenen-Screenings 1985-1989 in Niedersachsen.