Cerebral 1H MR spectroscopy showing elevation of brain guanidinoacetate in argininosuccinate lyase deficiency.
MR spectroscopy in a patient with argininosuccinate lyase deficiency revealed elevated cerebral guanidinoacetate signals, indicating that the phenomenon of increased levels of this compound in brain tissue is not limited to creatine deficiencies.
Sijens
P E
PE
Department of Radiology, University Medical Centre Groningen and University of Groningen, Groningen, 9713 GZ, The Netherlands. p.e.sijens@rad.umcg.nl
Reijngoud
D-J
DJ
Soorani-Lunsing
R J
RJ
Oudkerk
M
M
van Spronsen
F J
FJ
D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis*; D056807:Argininosuccinic Aciduria; D001923:Brain Chemistry; D002675:Child, Preschool; D005998:Glycine / Q000031:analogs & derivatives* / Q000032:analysis; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy
C004946:glycocyamine; D005998:Glycine