Cerebral 1H MR spectroscopy showing elevation of brain guanidinoacetate in argininosuccinate lyase deficiency

P E Sijens; D-J Reijngoud; R J Soorani-Lunsing; M Oudkerk; F J van Spronsen

doi:10.1016/j.ymgme.2005.10.013

Cerebral 1H MR spectroscopy showing elevation of brain guanidinoacetate in argininosuccinate lyase deficiency

Mol Genet Metab. 2006 May;88(1):100-2. doi: 10.1016/j.ymgme.2005.10.013. Epub 2005 Dec 15.

Authors

P E Sijens¹, D-J Reijngoud, R J Soorani-Lunsing, M Oudkerk, F J van Spronsen

Affiliation

¹ Department of Radiology, University Medical Centre Groningen and University of Groningen, Groningen, 9713 GZ, The Netherlands. p.e.sijens@rad.umcg.nl

PMID: 16343968
DOI: 10.1016/j.ymgme.2005.10.013

Abstract

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.

Publication types

Case Reports

MeSH terms

Amino Acid Metabolism, Inborn Errors / diagnosis*
Argininosuccinic Aciduria*
Brain Chemistry*
Child, Preschool
Glycine / analogs & derivatives*
Glycine / analysis
Humans
Infant
Infant, Newborn
Magnetic Resonance Imaging
Magnetic Resonance Spectroscopy

Substances

glycocyamine
Glycine