title: Glutaric aciduria type 1: proton magnetic resonance spectroscopy findings.
abstract: Glutaric aciduria type 1 is an inborn error of lysine, hydroxylysine, and tryptophan metabolism caused by deficiency of glutaryl-coenzyme A dehydrogenase. The disease often appears in infancy with an encephalopathic episode that results in acute basal ganglia and white matter degeneration. The neuroimaging findings in glutaric aciduria type 1 have been well defined. However, the changes in magnetic resonance spectroscopy, a noninvasive tool for identifying the biochemical state of the brain, are scarce in glutaric aciduria type 1. This report presents the magnetic resonance spectroscopy findings in a 19-month-old male with glutaric aciduria type 1. Magnetic resonance spectroscopy of right frontal white matter and right lentiform nuclei revealed decreased N-acetylaspartate/creatine ratio, slightly increased choline/creatine ratio, and increased myoinositol/creatine ratio, compared with the age-matched control patients. We thought that these changes were in accordance with neuroaxonal damage, demyelination, and astrocytosis in these areas. In conclusion, proton magnetic resonance spectroscopy provides a tool for assessing metabolic disturbances and the extent of brain damage noninvasively in glutaric aciduria type 1.
authors.affiliation: Department of Pediatric Neurology, Dokuz Eylül University Faculty of Medicine, Izmir, Turkey.
authors.forename: Semra
authors.initials: S
authors.lastname: Kurul
authors.forename: Handan
authors.initials: H
authors.lastname: Cakmakçi
authors.forename: Eray
authors.initials: E
authors.lastname: Dirik
mesh_terms: D020739:Brain Diseases, Metabolic, Inborn / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism*; D005977:Glutarates / Q000378:metabolism*; D050770:Glutaryl-CoA Dehydrogenase; D006801:Humans; D007223:Infant; D009682:Magnetic Resonance Spectroscopy / Q000379:methods*; D008297:Male; D044925:Oxidoreductases Acting on CH-CH Group Donors / Q000172:deficiency* / Q000235:genetics; D011522:Protons
chemical_list: D005977:Glutarates; D011522:Protons; D044925:Oxidoreductases Acting on CH-CH Group Donors; D050770:Glutaryl-CoA Dehydrogenase; C035736:glutaric acid