Usefulness of Magnetic Resonance Spectroscopy in Urea Cycle Disorders

Pediatric Neurology

Volumn 37, Issue 3, 2007, Pages 222-225

  Roze, Emmanuel ^a,b   Azuar, Carole ^a   Menuel, Carole ^c   Häberle, Johannes ^e   Guillevin, Remy ^c,d  

^a HÔPITAL SAINT ANTOINE   (France)

^b Groupe Enzymologie Moléculaire et Fonctionnelle   (France)

^c PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^d INSERM   (France)

^e UNIVERSITY HOSPITAL MÜNSTER   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; ARGININOSUCCINATE LYASE; BENZOIC ACID; BRAIN PROTEIN; CREATINE KINASE BB;

ADULT; ARGININOSUCCINATE LYASE DEFICIENCY; ARTICLE; BRAIN DISEASE; CASE REPORT; DIAGNOSTIC TEST; ENZYME DEFICIENCY; FEMALE; FOLLOW UP; HUMAN; METABOLIC DISORDER; NEUROLOGIC DISEASE; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; PRIORITY JOURNAL; PROTEIN DEFICIENCY; PROTEIN RESTRICTION; PROTON NUCLEAR MAGNETIC RESONANCE; UREA CYCLE DISORDER;

ADULT; ARGININOSUCCINATE LYASE; BRAIN DISEASES, METABOLIC; CREATINE; FEMALE; HUMANS; MAGNETIC RESONANCE SPECTROSCOPY; UREA;

EID: 34548228590     PISSN: 08878994     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2007.05.003     Document Type: Article

References (14)

1. Brusilow S.W., and Horwitch A.L. The Metabolic and molecular bases of inherited disease. In: Scriver C., Beaudet A., Sly W., and Valle D. (Eds). Urea cycle enzymes. 8th ed. (2001), McGraw-Hill, New York 1909-1964
2. Stromberger C., Bodamer O.A., and Stockler-Ipsiroglu S. Clinical characteristics and diagnostic clues in inborn errors of creatine metabolism. J Inherit Metab Dis 26 (2003) 299-308
3. Bodamer O.A., Sahoo T., Beaudet A.L., et al. Creatine metabolism in combined methylmalonic aciduria and homocystinuria. Ann Neurol 57 (2005) 557-560
4. Choi C.G., and Yoo H.W. Localized proton MR spectroscopy in infants with urea cycle defect. AJNR Am J Neuroradiol 22 (2001) 834-837
5. Arias A., Garcia-Villoria J., and Ribes A. Guanidinoacetate and creatine/creatinine levels in controls and patients with urea cycle defects. Mol Genet Metab 82 (2004) 220-223
6. 1H MR spectroscopy showing elevation of brain guanidinoacetate in argininosuccinate lyase deficiency. Mol Genet Metab 88 (2006) 100-102
7. Connelly A., Cross J.H., Gadian D.G., Hunter J.V., Kirkham F.J., and Leonard J.V. Magnetic resonance spectroscopy shows increased brain glutamine in ornithine carbamoyl transferase deficiency. Pediatr Res 33 (1993) 77-81
8. Kojic J., Robertson P.L., Quint D.J., Martin D.M., Pang Y., and Sundgren P.C. Brain glutamine by MRS in a patient with urea cycle disorder and coma. Pediatr Neurol 32 (2005) 143-146
9. Takanashi J., Kurihara A., Tomita M., et al. Distinctly abnormal brain metabolism in late-onset ornithine transcarbamylase deficiency. Neurology 59 (2002) 210-214
10. Bachmann C., Braissant O., Villard A.M., Boulat O., and Henry H. Ammonia toxicity to the brain and creatine. Mol Genet Metab 81 Suppl 1 (2004) S52-S57
11. Tapiero H., Mathé G., Couvreur P., and Tew K.D. I. Arginine. Biomed Pharmacother 56 (2002) 439-445
12. Dutton G.N., and Jacobson L.K. Cerebral visual impairment in children. Semin Neonatol 6 (2001) 477-485
13. 1H-MRS brain metabolite measurements at 3 T. Magn Reson Imaging 24 (2006) 187-194
14. Baslow M.H. N-acetylaspartate in the vertebrate brain: metabolism and function. Neurochem Res 28 (2003) 941-953