Molecular Genetics and Metabolism 88 (2006) 285–289 www.elsevier.com/locate/ymgme 1096-7192/$ - see front matter  2006 Elsevier Inc. All rights reserved. doi:10.1016/j.ymgme.2006.01.001 Brief communication Cerebral 1 H MR spectroscopy revealing white matter NAA decreases in glutaric aciduria type I P.E. Sijens a,¤ , G.P.A. Smit b , L.C. Meiners a , M. Oudkerk a , F.J. van Spronsen c a Department of Radiology, University Medical Center Groningen and University of Groningen, Groningen, The Netherlands b Department of Pediatrics, University Medical Center Groningen and University of Groningen, Groningen, The Netherlands c Beatrix Children’s Hospital, University Medical Center Groningen and University of Groningen, Groningen, The Netherlands Received 3 January 2006; accepted 4 January 2006 Available online 20 February 2006 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.  2006 Elsevier Inc. All rights reserved. Keywords: Glutaric aciduria type I; Magnetic resonance spectroscopy; Brain metabolism Introduction Glutaric aciduria type I (GA I) is a rare inborn error of tryptophan, lysine, and hydroxylysine metabolism caused by the deWciency of glutaryl-CoA dehydrogenase. Impaired degradation of these amino acids renders accumulation of 3-OH glutaric acid (glutaric acid and gluconic acid may also be found) and neurotoxicity [1,2]. In MR imaging the observations include enlarged sylvian Wssures, white matter and basal ganglia changes, and atrophy of brain tissue [3]. 1 H MR single voxel spectroscopy studies indicated decreased N-acetylaspartate/creatine ratio (NAA/Cr), slightly increased choline/Cr ratio, and increased inositol/ Cr ratio in one case of GA I [3] as opposed to normal metabolite levels in another [4]. Very recently NAA/Cr decrease was as well as a presence of lactate was observed in a third case of GA I [5]. The purpose of this study was to use multiple voxel MR spectroscopy (MRS) to map and quantitatively assess brain metabolism in two more cases of GA I. Case reports Patient 1 Female and Wrst child of nonconsanguineous healthy parents of Turkish descent. A younger sister was healthy. Pregnancy and delivery were uneventful. Psychomotor retardation was noticed from age 17 months on. Macro- cephaly was not found as a presenting sign, dystonia and dyskinesia were not prominent, and a muscle biopsy per- formed at age two showed normal morphology. Hyperto- nia initially was prominent and later choreoathetotic movement disorders gradually developed. MRI scanning of the cerebrum was interpreted as Leigh’s disease. From age Wve years epileptic seizures were regularly noticed, increas- ing in duration, and severity. Anti-epileptic treatment could not suppress these attacks. Subsequent neuroimaging revealed a tumor in the region of the right insula, causing a slight midline shift. In both hemispheres increased signal intensity was seen diVusely in the frontoparietal white mat- ter with slight extension to the temporal white matter. The arcuate Wbres were spared. This diVuse white matter disease did not have the appearance of transependymal CSF leak- age caused by high ventricular pressure. Furthermore high signal was seen bilaterally in the dorsal putamen, the right * Corresponding author. E-mail address: p.e.sijens@rad.umcg.nl (P.E. Sijens).