Presymptomatic treatment of neonatal guanidinoacetate methyltransferase deficiency.
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.
Schulze
A
A
Department of Pediatrics I, University Children's Hospital, Heidelberg, Germany. andreas.schulze@urz.uni-heidelberg.de
Hoffmann
G F
GF
Bachert
P
P
Kirsch
S
S
Salomons
G S
GS
Verhoeven
N M
NM
Mayatepek
E
E
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
D001565:Benzoates; D004338:Drug Combinations; D009952:Ornithine; D050937:Guanidinoacetate N-Methyltransferase; D003401:Creatine