title: Presymptomatic treatment of neonatal guanidinoacetate methyltransferase deficiency.
abstract: Prospective observation in a neonate with guanidinoacetate methyltransferase deficiency (GAMT-D), a severe neurometabolic disorder, revealed increased guanidinoacetate levels at birth. After 14-month treatment with creatine, high-dose ornithine, benzoate, and an arginine-restricted diet, the patient's development is normal and she does not present any symptoms of GAMT-D. The authors' observation indicates that early detection of GAMT-D is possible in the neonatal period, and presymptomatic treatment may prevent its manifestation.
authors.affiliation: Department of Pediatrics I, University Children's Hospital, Heidelberg, Germany. andreas.schulze@urz.uni-heidelberg.de
authors.forename: A
authors.initials: A
authors.lastname: Schulze
authors.forename: G F
authors.initials: GF
authors.lastname: Hoffmann
authors.forename: P
authors.initials: P
authors.lastname: Bachert
authors.forename: S
authors.initials: S
authors.lastname: Kirsch
authors.forename: G S
authors.initials: GS
authors.lastname: Salomons
authors.forename: N M
authors.initials: NM
authors.lastname: Verhoeven
authors.forename: E
authors.initials: E
authors.lastname: Mayatepek
mesh_terms: D001565:Benzoates / Q000008:administration & dosage*; D020739:Brain Diseases, Metabolic, Inborn / Q000175:diagnosis* / Q000188:drug therapy / Q000517:prevention & control*; D003401:Creatine / Q000008:administration & dosage*; D004338:Drug Combinations; D005260:Female; D050937:Guanidinoacetate N-Methyltransferase / Q000172:deficiency*; D006801:Humans; D007231:Infant, Newborn; D009952:Ornithine / Q000008:administration & dosage*; D016896:Treatment Outcome
chemical_list: D001565:Benzoates; D004338:Drug Combinations; D009952:Ornithine; D050937:Guanidinoacetate N-Methyltransferase; D003401:Creatine