title: Elevation of guanidinoacetate in newborn dried blood spots and impact of early treatment in GAMT deficiency.
abstract: Guanidinoacetate methyltransferase (GAMT) deficiency is a good candidate disorder for newborn screening because early treatment appears to improve outcomes. We report elevation of guanidinoacetate in archived newborn dried blood spots for 3 cases (2 families) of GAMT deficiency compared with an unaffected carrier and controls. We also report a new case of a patient treated from birth with normal developmental outcome at the age of 42 months.
authors.affiliation: Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, NC, USA.
authors.forename: Areeg H
authors.initials: AH
authors.lastname: El-Gharbawy
authors.forename: Jennifer L
authors.initials: JL
authors.lastname: Goldstein
authors.forename: David S
authors.initials: DS
authors.lastname: Millington
authors.forename: Amie E
authors.initials: AE
authors.lastname: Vaisnins
authors.forename: Andrea
authors.initials: A
authors.lastname: Schlune
authors.forename: Bruce A
authors.initials: BA
authors.lastname: Barshop
authors.forename: Andreas
authors.initials: A
authors.lastname: Schulze
authors.forename: Dwight D
authors.initials: DD
authors.lastname: Koeberl
authors.forename: Sarah P
authors.initials: SP
authors.lastname: Young
mesh_terms: D016022:Case-Control Studies; D002675:Child, Preschool; D003401:Creatine / Q000627:therapeutic use; D059788:Dried Blood Spot Testing; D042241:Early Diagnosis; D005260:Female; D005998:Glycine / Q000031:analogs & derivatives* / Q000097:blood; D050937:Guanidinoacetate N-Methyltransferase / Q000097:blood / Q000172:deficiency*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007805:Language Development Disorders / Q000097:blood / Q000175:diagnosis / Q000628:therapy*; D008297:Male; D009069:Movement Disorders / Q000097:blood / Q000151:congenital* / Q000175:diagnosis / Q000628:therapy; D009952:Ornithine / Q000627:therapeutic use; D016896:Treatment Outcome
chemical_list: D009952:Ornithine; D050937:Guanidinoacetate N-Methyltransferase; C004946:glycocyamine; D003401:Creatine; D005998:Glycine