1H MRS identifies symptomatic and asymptomatic subjects with partial ornithine transcarbamylase deficiency

Molecular Genetics and Metabolism

Volumn 95, Issue 1-2, 2008, Pages 21-30

  Gropman, A L ^a   Fricke, S T ^a,b   Seltzer, R R ^b   Hailu, A ^b   Adeyemo, A ^b   Sawyer, A ^b   van Meter, J ^b   Gaillard, W D ^a,c   McCarter, R ^c   Tuchman, M ^a,c   Batshaw, M ^a,c  

^a GEORGE WASHINGTON UNIVERSITY SCHOOL OF MEDICINE AND HEALTH SCIENCES   (United States)

^b GEORGETOWN UNIVERSITY MEDICAL CENTER   (United States)

^c CHILDREN S RESEARCH INSTITUTE   (United States)

Author keywords

Ammonia; Glutamine; Heterozygote; Hyperammonemia; Magnetic resonance imaging spectroscopy; Metabolic; Myoinositol; Ornithine transcarbamylase deficiency

Indexed keywords

AMMONIA; CHOLINE; GLUTAMINE; INOSITOL; N ACETYLASPARTIC ACID;

ADULT; AMMONIA BLOOD LEVEL; ARTICLE; CINGULATE GYRUS; CLINICAL ARTICLE; COMPARATIVE STUDY; CONTROL GROUP; CONTROLLED STUDY; DISEASE SEVERITY; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; FEMALE; FRONTAL CORTEX; GRAY MATTER; HUMAN; INTELLIGENCE QUOTIENT; MALE; METABOLIC REGULATION; OSMOREGULATION; PARIETAL LOBE; PHYSICAL PERFORMANCE; PRIORITY JOURNAL; PROTON NUCLEAR MAGNETIC RESONANCE; THALAMUS; WHITE MATTER; ADOLESCENT; BRAIN; CASE CONTROL STUDY; HOSPITALIZATION; METABOLISM; METHODOLOGY; MIDDLE AGED; NUCLEAR MAGNETIC RESONANCE IMAGING; RADIOGRAPHY;

ADOLESCENT; ADULT; BRAIN; CASE-CONTROL STUDIES; FEMALE; HUMANS; INOSITOL; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; ORNITHINE CARBAMOYLTRANSFERASE DEFICIENCY DISEASE; SEVERITY OF ILLNESS INDEX;

EID: 51649096337     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2008.06.003     Document Type: Article

References (40)

1. Nagata N., Matsuda I., and Oyanagi K. Estimated frequency of urea cycle enzymopathies in Japan. Am. J. Med. Genet. 39 (1991) 228-229
2. Applegarth D.A., Toone J.R., and Lowry R.B. Incidence of inborn errors of metabolism in British Columbia 1969-1996. Pediatrics 105 (2000) e10 (Abstract)
3. In: Scriver C.R., Beaudet A.L., Sly W.S., Valle D., Childs B., Kinzler K.W., and Vogelstein B. (Eds). The Metabolic and Molecular Bases of Inherited Disease. eighth ed. (2001), McGraw-Hill, New York (1909-1964)
4. Caldovic L., Morizono H., Gracia Panglao M., Gallegos R., Yu X., Shi D., Malamy M.H., Allewell N.M., and Tuchman M. Cloning and expression of the human N-acetylglutamate synthase gene. Biochem. Biophys. Res. Commun. 299 (2002) 581-586
5. Caldovic L., Morizono H., Panglao M.G., and Cheng S.F. Null mutations in the N-acetylglutamate synthase gene associated with acute neonatal disease and hyperammonemia. Hum. Genet. 112 (2003) 364-368
6. Dionisi-Vici C., Rizzo C., Burlina A.B., Caruso U., Sabetta G., Uziel G., and Abeni D. Inborn errors of metabolism in the Italian pediatric population: a national retrospective survey. J. Pediatr. 140 (2002) 321-327
7. Tuchman M., Jaleel N., Morizono H., Sheehy L., and Lynch M.G. Mutations and polymorphisms in the human ornithine transcarbamylase gene. Hum. Mutat. 19 (2002) 93-107
8. Kang E.S., Snodgrass P.J., and Gerald P.S. Ornithine transcarbamylase deficiency in the newborn infant. J. Pediatr. 82 (1973) 642-649
9. Brusilow S.W., and Maestri N.E. Urea cycle disorders: diagnosis, pathophysiology, and therapy. Adv. Pediatr. 43 (1996) 127-170
10. McCullough B.A., Yudkoff M., Batshaw M.L., Wilson J.M., Raper S.E., and Tuchman M. Genotype spectrum of ornithine transcarbamylase deficiency: correlation with the clinical and biochemical phenotype. Am. J. Med. Genet. 93 (2000) 313-319
11. Campbell A.G., Rosenberg L.E., Snodgrass P.J., and Nuzum C.T. Ornithine transcarbamylase deficiency: a cause of lethal neonatal hyperammonemia in males. N. Engl. J. Med. 288 (1973) 1-6
12. Msall M., Batshaw M.L., Suss R., and Brusilow S.W. Neurologic outcome in children with inborn errors of urea synthesis. Outcome of urea-cycle enzymopathies. N. Engl. J. Med. 310 (1984) 1500-1505
13. Msall M., Monahan P.S., Chapanis N., and Batshaw M.L. Cognitive development in children with inborn errors of urea synthesis. Acta Paediatr. Jpn. 30 (1988) 435-441
14. Gropman A.L., and Batshaw M.L. Cognitive outcome in urea cycle disorders. Mol. Genet. Metab. 81 Suppl. 1 (2004) S58-S62
15. Rowe P.C., Newman S.L., and Brusilow S.W. Natural history of symptomatic partial ornithine transcarbamylase deficiency. N. Engl. J. Med. 314 (1986) 541-547
16. DiMagno E.P., Lowe J.E., Snodgrass P.J., and Jones J.D. Ornithine transcarbamylase deficiency-a cause of bizarre behavior in a man. N. Engl. J. Med. 315 (1986) 744-747
17. Nicolaides P., Liebsch D., Dale N., Leonard J., and Surtees R. Neurological outcome of patients with ornithine carbamoyltransferase deficiency. Arch. Dis. Child. 86 (2002) 54-56
18. Batshaw M.L., Msall M., Beaudet A.L., and Trojak J. Risk of serious illness in heterozygotes for ornithine transcarbamylase deficiency. J. Pediatr. 108 (1986) 236-241
19. Christodoulou J., Qureshi I.A., McInnes R.R., and Clarke J.T. Ornithine transcarbamylase deficiency presenting with strokelike episodes. J. Pediatr. 122 (1993) 423-425
20. Mamourian A.C., and du Plessis A. Urea cycle defect: a case with MR and CT findings resembling infarct. Pediatr. Radiol. 21 (1991) 594-595
21. Pridmore C.L., Clarke J.T., and Blaser S. Ornithine transcarbamylase deficiency in females: an often overlooked cause of treatable encephalopathy. J. Child. Neurol. 10 (1995) 369-374
22. Batshaw M.L., Roan Y., Jung A.L., Rosenberg L.A., and Brusilow S.W. Cerebral dysfunction in asymptomatic carriers of ornithine transcarbamylase deficiency. N. Engl. J. Med. 302 (1980) 482-485
23. Gyato K., Wray J., Huang Z.J., Yudkoff M., and Batshaw M.L. Metabolic and neuropsychological phenotype in women heterozygous for ornithine transcarbamylase deficiency. Ann. Neurol. 55 (2004) 80-86
24. 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
25. Takanashi J., Kurihara A., Tomita M., Kanazawa M., Yamamoto S., Morita F., Ikehira H., Tanada S., and Kohno Y. Distinctly abnormal brain metabolism in late-onset ornithine transcarbamylase deficiency. Neurology 59 (2002) 210-214
26. Provencher S.W. Estimation of metabolite concentrations from localized in vivo proton NMR spectra. Magn. Reson. Med. 30 (1993) 672-679
27. Kreis R., Ernst T., and Ross B.D. Development of the human brain: in vivo quantification of metabolite and water content with proton magnetic resonance spectroscopy. Magn. Reson. Med. 30 (1993) 424-437
28. 1H-magnetic resonance spectroscopy and a gallery of artifacts. NMR Biomed. 17 (2004) 361-381
29. Cavassila S., Deval S., Huegen C., Ormondt v., and Graveron-Demilly D. Cramér-Rao bounds: an evaluation tool for quantitation. NMR Biomed. 14 (2001) 278-283
30. Isaacks R.E., Bender A.S., Kim C.Y., Shi Y.F., and Norenberg M.D. Effect of osmolality and anion channel inhibitors on myo-inositol efflux in cultured astrocytes. J. Neurosci. Res. 57 (1999) 866-871
31. Geissler A., Lock G., Fründ R., Held P., Hollerbach S., Andus T., Schölmerich J., Feuerback S., and Holstege A. Cerebral abnormalities in patients with cirrhosis detected by proton magnetic resonance spectroscopy and magnetic resonance imaging. Hepatology 25 (1997) 48-54
32. Baslow M.H. Evidence supporting a role for N-acetyl-l-aspartate as a molecular water pump in myelinated neurons in the central nervous system. An analytical review. Neurochem. Int. 40 (2002) 295-300
33. Takayanagi M., Ohtake A., Ogura N., Nakajima H., and Hoshino M. A female case of ornithine transcarbamylase deficiency with marked computed tomographic abnormalities of the brain. Brain Dev. 6 (1984) 58-60
34. Jayakumar A.R., Rao K.V., Murthy Ch.R., and Norenberg M.D. Glutamine in the mechanism of ammonia-induced astrocyte swelling. Neurochem. Int. 48 (2006) 623-628
35. Suarez I., Bodega G., and Fernandez B. Glutamine synthetase in brain: effect of ammonia. Neurochem. Int. 41 (2002) 123-142
36. Albrecht J., Sonnewald U., Waagepetersen H.S., and Schousboe A. Glutamine in the central nervous system: function and dysfunction. Front. Biosci. 12 (2007) 332-343
37. Kreis R., Ross B.D., Farrow N.A., and Ackerman Z. Metabolic disorders of the brain in chronic hepatic encephalopathy detected with H-1 MR spectroscopy. Radiology 182 (1992) 19-27
38. 31P nuclear magnetic resonance study. J. Neurochem. 53 (1989) 102-110
39. Batshaw M.L., Hyman S.L., Mellits E.D., Thomas G.H., DeMuro R., and Coyle J.T. Behavioral and neurotransmitter changes in the urease-infused rat: a model of congenital hyperammonemia. Pediatr. Res. 20 (1986) 1310-1315
40. Takahashi H., Koehler R.C., Brusilow S.W., and Traystman R.J. Inhibition of brain glutamine accumulation prevents cerebral edema in hyperammonemic rats. Am. J. Physiol. 261 (1991) H825-H829