Neuroimaging findings in hyperargininemia

Journal of Neuroimaging

Volumn 18, Issue 4, 2008, Pages 457-462

  Güngör, Serdal ^a   Akinci, Ayşehan ^a   Firat, Ahmet Kemal ^a   Tabel, Yilmaz ^a   Alkan, Alpay ^a  

^a INONU UNIVERSITY   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

ARGINASE; ARGININE; CHOLINE; CREATINE;

ANAMNESIS; ARTICLE; BRAIN ATROPHY; BRAIN INFARCTION; CASE REPORT; CEREBELLUM ATROPHY; CLINICAL EXAMINATION; DISEASE ASSOCIATION; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; ENZYME DEFICIENCY; HUMAN; IMAGE ENHANCEMENT; LABORATORY TEST; MALE; MYELINATION; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; PHYSICAL EXAMINATION; PRESCHOOL CHILD;

ARGININE; ASPARTIC ACID; ATROPHY; BASAL GANGLIA CEREBROVASCULAR DISEASE; BRAIN DISEASES; CEREBELLUM; CEREBRAL CORTEX; CHILD, PRESCHOOL; CHOLINE; CONSANGUINITY; CREATINE; DOMINANCE, CEREBRAL; ENERGY METABOLISM; HUMANS; HYPERARGININEMIA; IMAGE PROCESSING, COMPUTER-ASSISTED; MAGNETIC RESONANCE IMAGING; MAGNETIC RESONANCE SPECTROSCOPY; MALE; MENTAL RETARDATION; NERVE FIBERS, MYELINATED; PUTAMEN;

EID: 49149109465     PISSN: 10512284     EISSN: 15526569     Source Type: Journal    
DOI: 10.1111/j.1552-6569.2007.00217.x     Document Type: Article

References (15)

1. Crombez EA, Cederbaum SD. Hyperargininemia due to liver arginase deficiency. Mol Genet Metab 2005 84 : 243 251.
2. Scaglia F, Lee B. Clinical, biochemical, and molecular spectrum of hyperargininemia due to arginase I deficiency. Am J Med Genet C Semin Med Genet 2006 142 : 113 120.
3. Delwing D, Tagliari B, Streck EL, Wannamacher CM, Wajner M, Wyse AT. Reduction of energy metabolism in rat hippocampus by arginine administration. Brain Res 2003 983 : 58 63.
4. Cecil KM, Jones BV. Magnetic resonance spectroscopy of the pediatric brain. Topic Magn Reson Imaging 2001 12 : 435 452.
5. Bloom W, Huijmans JGM. Differential diagnosis of (inherited) amino acid metabolism or transport disorders. Amino Acids 1992 2 : 25 67.
6. Cederbaum SD, Shaw KN, Spector EB, Verity MA, Snodgrass PJ, Sugarman GI. Hyperargininemia with arginase deficiency. Pediatr Res 1979 3 : 827 833.
7. Grody WW, Kern RM, Klein D, et al. Arginase deficiency manifesting delayed clinical sequelae and induction of a kidney arginase isozyme. Hum Genet 1993 91 : 1 5.
8. Picker JD, Puga AC, Levy HL, et al. Arginase deficiency with lethal neonatal expression: evidence for the glutamine hypothesis of cerebral edema. J Pediatr 2003 42 : 349 352.
9. Wyse AT, Stefanello FM, Chiarani F, Delwing D, Wannmacher CM, Wajner M. Arginine administration decreases cerebral cortex acetylcholinesterase and serum butyrylcholinesterase probably by oxidative stress induction. Neurochem Res 2004 29 : 385 389.
10. Takanashi JI, Barkovich AJ, Cheng SF, et al. Brain MR imaging in neonatal hyperammonemic encephalopathy resulting from proximal urea cycle disorders. AJNR Am Neuroradiol 2003 24 : 1184 1187.
11. Harrington JW, Stiefel M, Gianos E. Arginase deficiency presenting with cerebral oedema and failure to thrive. J Inherit Metab Dis 2000 23 : 517 518.
12. Choi CG, Yoo HW. Localized proton MR spectroscopy in infants with urea cycle defect. Am J Neuroradiol 2001 22 : 834 837.
13. Kojic J, Robertson PL, Quint DJ, Martin DM, Pang Y, Sundgren PC. Brain glutamine by MRS in a patient with urea cycle disorder and coma. Pediatr Neurol 2005 32 : 143 146.
14. Takanashi J, Kurihara A, Tomita M, et al. Distinctly abnormal brain metabolism in late-onset ornithine transcarbamylase deficiency. Neurology 2002 59 : 210 214.
15. Tugnoli V, Mucci A, Schenetti L, et al. Molecular characterization of human gastric mucosa by HR-MAS magnetic resonance spectroscopy. Int J Mol Med 2004 14 : 1065 1071.