Cerebral 1H MR spectroscopy revealing white matter NAA decreases in glutaric aciduria type I

P E Sijens; G P A Smit; L C Meiners; M Oudkerk; F J van Spronsen

doi:10.1016/j.ymgme.2006.01.001

Cerebral 1H MR spectroscopy revealing white matter NAA decreases in glutaric aciduria type I

Mol Genet Metab. 2006 Jul;88(3):285-9. doi: 10.1016/j.ymgme.2006.01.001. Epub 2006 Feb 20.

Authors

P E Sijens¹, G P A Smit, L C Meiners, M Oudkerk, F J van Spronsen

Affiliation

¹ Department of Radiology, University Medical Center Groningen and University of Groningen, Groningen, The Netherlands. [email protected]

PMID: 16488172
DOI: 10.1016/j.ymgme.2006.01.001

Abstract

MR spectroscopy in two patients with glutaric aciduria type I revealed reductions in the white matter N-acetylaspartate signal, in the more severe case accompanied by a loss of glutamate and the appearance of lactate signals.

Publication types

Case Reports

MeSH terms

Amino Acid Metabolism, Inborn Errors / genetics*
Amino Acid Metabolism, Inborn Errors / metabolism
Aspartic Acid / analogs & derivatives*
Aspartic Acid / metabolism
Brain / metabolism*
Brain / pathology
Child
Child, Preschool
Female
Glutamates / metabolism
Glutaryl-CoA Dehydrogenase / deficiency
Glutaryl-CoA Dehydrogenase / genetics*
Humans
Image Processing, Computer-Assisted
Inositol / metabolism
Lactates / metabolism
Magnetic Resonance Imaging
Magnetic Resonance Spectroscopy
Male

Substances

Glutamates
Lactates
Aspartic Acid
Inositol
N-acetylaspartate
Glutaryl-CoA Dehydrogenase