title: Reversible brain atrophy in glutaric aciduria type 1.
abstract: Glutaric aciduria type 1 (GA1) is a rare metabolic disorder caused by a deficiency of glutaryl-CoA dehydrogenase. The typical clinical onset features an acute encephalopathic crisis developed in early childhood, causing irreversible striatal injury. Recently, tandem mass spectrometry of spots of dried blood has allowed pre-symptomatic detection of GA1 in newborns. Early treatment can prevent irreversible neurological injury. We report the case of a girl with GA1 who exhibited a characteristic reversible change upon brain magnetic resonance imaging (MRI). She was diagnosed with GA1 as a newborn. She commenced dietary carnitine and her intake of lysine and tryptophan were reduced at the age of 4weeks. After treatment commenced, her mean glutarylcarnitine level was lower than that in the previous reports. The plasma lysine and tryptophan levels were maintained below the normal ranges. At 4months, brain MRI revealed a widened operculum with dilatation of the subarachnoid spaces surrounding the atrophic bilateral frontotemporal lobes; this is typical of GA1 patients. However, at 17months, MRI revealed that the atrophic lesion had disappeared and she subsequently underwent normal maturation. She has never suffered a metabolic decompensation episode. At 26months, her development and brain MRI were normal. The present reversible brain atrophy in a patient with GA1 indicates that early dietary modifications with a lower level of glutarylcarnitine and administration of carnitine can lead to normal development.
authors.affiliation: Department of Pediatrics, Tohoku University School of Medicine, Japan.
authors.forename: Yurika
authors.initials: Y
authors.lastname: Numata-Uematsu
authors.affiliation: Department of Pediatrics, Tohoku University School of Medicine, Japan.
authors.forename: Osamu
authors.initials: O
authors.lastname: Sakamoto
authors.affiliation: Department of Epileptology, Tohoku University School of Medicine, Japan.
authors.forename: Yosuke
authors.initials: Y
authors.lastname: Kakisaka
authors.affiliation: Department of Pediatrics, Tohoku University School of Medicine, Japan.
authors.forename: Yukimune
authors.initials: Y
authors.lastname: Okubo
authors.affiliation: Department of Pediatrics, Tohoku University School of Medicine, Japan.
authors.forename: Yoshitsugu
authors.initials: Y
authors.lastname: Oikawa
authors.affiliation: Department of Pediatrics, Tohoku University School of Medicine, Japan.
authors.forename: Natsuko
authors.initials: N
authors.lastname: Arai-Ichinoi
authors.affiliation: Department of Pediatrics, Tohoku University School of Medicine, Japan.
authors.forename: Shigeo
authors.initials: S
authors.lastname: Kure
authors.affiliation: Department of Pediatrics, Tohoku University School of Medicine, Japan. Electronic address: uematsu@bk9.so-net.ne.jp.
authors.forename: Mitsugu
authors.initials: M
authors.lastname: Uematsu
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications* / Q000000981:diagnostic imaging / Q000473:pathology*; D000596:Amino Acids / Q000097:blood; D001284:Atrophy / Q000209:etiology*; D001921:Brain / Q000000981:diagnostic imaging / Q000473:pathology*; D001928:Brain Diseases, Metabolic / Q000150:complications* / Q000000981:diagnostic imaging / Q000473:pathology*; D002675:Child, Preschool; D005260:Female; D050770:Glutaryl-CoA Dehydrogenase / Q000172:deficiency*; D006801:Humans; D008279:Magnetic Resonance Imaging
chemical_list: D000596:Amino Acids; D050770:Glutaryl-CoA Dehydrogenase
keywords: Glutaric acid; Glutaric aciduria type 1; Reversible brain atrophy