title: MRS features during encephalopathic crisis period in 11 years old case with GA-1.
abstract: Glutaric aciduria type-1 (GA-1) is a disorder of amino acid metabolism. The usual clinical-onset is an acute encephalopathic crisis in early childhood. There are only a few cases diagnosed in older age groups. MRI features of the disease are well defined. However, there are limited number of studies concerning advanced neuroimaging findings. We present DWI and MRS findings of an 11 year-old GA-1 patient admitted with an encephalopathic crisis. Diffusion restrictions in bilateral basal ganglia, corpus callosum and periventricular deep white matter were observed. In left occipital periventricular white matter and left basal ganglia, mild increased Cho/Cr and MI/Cr ratios and decreased NAA/Cr ratio were detected. Also inverted double lactate peak (TE: 135 ms) was present at 1.33 ppm in the left basal ganglia. In addition to these findings, a peak at 1.56 ppm above the baseline was seen on both short and long echo-time MRS in left occipital lobe deep white matter which may show accumulation of degradation products of amino acids in the GCDH enzyme deficiency.
authors.affiliation: Department of Radiology, Bezmialem Vakif University, Faculty of Medicine, Istanbul, Turkey. Electronic address: s.kurtcan@hotmail.com.
authors.forename: Serpil
authors.initials: S
authors.lastname: Kurtcan
authors.affiliation: Department of Radiology, Bezmialem Vakif University, Faculty of Medicine, Istanbul, Turkey.
authors.forename: Banu
authors.initials: B
authors.lastname: Aksu
authors.affiliation: Department of Radiology, Bezmialem Vakif University, Faculty of Medicine, Istanbul, Turkey.
authors.forename: Alpay
authors.initials: A
authors.lastname: Alkan
authors.affiliation: Department of Pediatric Neurology, Bezmialem Vakif University, Faculty of Medicine, Istanbul, Turkey.
authors.forename: Serhat
authors.initials: S
authors.lastname: Guler
authors.affiliation: Department of Pediatric Neurology, Bezmialem Vakif University, Faculty of Medicine, Istanbul, Turkey.
authors.forename: Akin
authors.initials: A
authors.lastname: Iscan
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis*; D001927:Brain Diseases / Q000175:diagnosis*; D001928:Brain Diseases, Metabolic / Q000175:diagnosis*; D002648:Child; D050770:Glutaryl-CoA Dehydrogenase / Q000172:deficiency*; D006801:Humans; D009682:Magnetic Resonance Spectroscopy / Q000379:methods*; D008297:Male
chemical_list: D050770:Glutaryl-CoA Dehydrogenase
keywords: Encephalopathic crisis; Glutaric aciduria type-1; Magnetic resonance spectroscopy