title: Newborn screening compared to clinical identification of biochemical genetic disorders.
abstract: A group of 28 patients with inherited metabolic disease (homocystinuria galactosaemia, maple syrup urine disease and biotinidase deficiency) diagnosed by screening were compared with a group of 17 similar patients identified clinically. The rate of hospitalization was similar for the two groups. The patients diagnosed clinically showed a higher incidence of mental retardation and their parents experienced greater stress and found greater difficulty in meeting their child's needs.
authors.affiliation: Children's Hospital, Inborn Errors of Metabolism Clinic, Boston, Massachusetts 02115, USA. susan.waisbren@tch.harvard.edu
authors.forename: S E
authors.initials: SE
authors.lastname: Waisbren
authors.forename: C Y
authors.initials: CY
authors.lastname: Read
authors.forename: M
authors.initials: M
authors.lastname: Ampola
authors.forename: T G
authors.initials: TG
authors.lastname: Brewster
authors.forename: L
authors.initials: L
authors.lastname: Demmer
authors.forename: R
authors.initials: R
authors.lastname: Greenstein
authors.forename: C L
authors.initials: CL
authors.lastname: Ingham
authors.forename: M
authors.initials: M
authors.lastname: Korson
authors.forename: M
authors.initials: M
authors.lastname: Msall
authors.forename: S
authors.initials: S
authors.lastname: Pueschel
authors.forename: M
authors.initials: M
authors.lastname: Seashore
authors.forename: V E
authors.initials: VE
authors.lastname: Shih
authors.forename: H L
authors.initials: HL
authors.lastname: Levy
mesh_terms: D000293:Adolescent; D028921:Biotinidase Deficiency / Q000175:diagnosis; D002648:Child; D002675:Child, Preschool; D005693:Galactosemias / Q000175:diagnosis; D006712:Homocystinuria / Q000175:diagnosis; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008375:Maple Syrup Urine Disease / Q000175:diagnosis; D008661:Metabolism, Inborn Errors / Q000175:diagnosis*; D015997:Neonatal Screening; D017063:Outcome Assessment, Health Care