title: Comparison of profound biotinidase deficiency in children ascertained clinically and by newborn screening using a simple method of accurately determining residual biotinidase activity.
abstract: We describe a method for more accurately determining residual biotinidase activity in sera of individuals with profound biotinidase deficiency. Using this method we found that there is a statistically significant difference in the means of residual serum enzyme activities of symptomatic children and those identified by newborn screening. A subgroup of children identified by screening have activities higher than any of the symptomatic population. These children may develop mild symptoms, may develop symptoms later in life, or may not develop symptoms at all.
authors.affiliation: Department of Human Genetics, Medical College of Virginia/Virginia Commonwealth University, Richmond 23298.
authors.forename: P S
authors.initials: PS
authors.lastname: Hart
authors.forename: B O
authors.initials: BO
authors.lastname: Barnstein
authors.forename: J R
authors.initials: JR
authors.lastname: Secor McVoy
authors.forename: R
authors.initials: R
authors.lastname: Matalon
authors.forename: B
authors.initials: B
authors.lastname: Wolf
mesh_terms: D000581:Amidohydrolases / Q000032:analysis / Q000172:deficiency*; D043523:Biotinidase; D002648:Child; D006801:Humans; D007231:Infant, Newborn; D015997:Neonatal Screening
chemical_list: D000581:Amidohydrolases; D043523:Biotinidase