Urea cycle disorders

Liver Disease in Children, Third Edition

Volumn , Issue , 2007, Pages 858-868

  Summar, Marshall L ^a  

^a VANDERBILT UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84882834672     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1017/CBO9780511547409.038     Document Type: Chapter

References (70)

1. Krebs HA, Henseleit K. Untersuchungen uber die harnstoffbildung im tierkorper. Hoppe-Seyler’s Z Physiol Chem 1932;210: 325–32.
2. Batshaw ML. Hyperammonemia. Curr Probl in Pediatr 1984;14: 1–69.
3. Brusilow SW. Urea cycle disorders: clinical paradigm of hyperammonemic encephalopathy. Prog Liver Dis 1995;13:293–309.
4. Butterworth RF. Effects of hyperammonaemia on brain function [review]. J Inherit Metab Dis 1998;21Suppl 1:6–20.
5. Fujiwara M. Role ofammoniain the pathogenesis of brain edema. Acta Medica Okayama 1986;40:313–20.
6. Takahashi H, Koehler RC, Hirata T, et al. Restoration of cerebrovascular CO2 responsivity by glutamine synthesis inhibition in hyperammonemic rats. Circ Res 1992;71:1220–30.
7. Tuchman M, Mauer SM, Holzknecht RA, et al. Prospective versus clinical diagnosis and therapy of acute neonatal hyperammonaemia in two sisters with carbamyl phosphate synthetase deficiency. J Inherit Metab Dis 1992;15:269–77.
8. Summar ML, Barr F, Dawling S, et al. Unmasked adult-onset urea cycle disorders in the critical care setting. Crit Care Clin 2005; 21 Suppl 4:S1–8.
9. Mitchell RB, Wagner JE, Karp JE, et al. Syndrome of idiopathic hyperammonemia after high-dose chemotherapy: review of nine cases [see comments]. Am J Med 1988;85:662–7.
10. Batshaw ML, Brusilow SW. Valproate-induced hyperammonemia. Ann Neurol 1982;11:319–21.
11. Bourrier P, Varache N, Alquier P, et al. [Cerebral edema with hyperammonemia in valpromide poisoning. Manifestation in an adult, of a partial deficit in type I carbamylphosphate synthetase]. In French. Presse Med 1988;17:2063–6.
12. Castro-Gago M, Rodrigo-Saez E, Novo-Rodriguez I, et al. Hyperaminoacidemia in epileptic children treated with valproic acid. Childs Nerv Syst 1990;6:434–6.
13. Elgudin L, Hall Y, Schubert D. Ammonia induced encephalopathy from valproic acid in a bipolar patient: case report. Int J Psychiatry Med 2003;33:91–6.
14. Kugoh T, Yamamoto M, Hosokawa K. Blood ammonia level during valproic acid therapy. Jpn J Psychiatry Neurol 1986;40:663–8.
15. Vainstein G, Korzets Z, Pomeranz A, Gadot N. Deepening coma in an epileptic patient: the missing link to the urea cycle. Hyperammonaemic metabolic encephalopathy. Nephrol Dial Transplant 2002;17:1351–3.
16. Saheki T, Kobayashi K. Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD). J Hum Genet 2002;47:333–41.
17. Saheki T, Kobayashi K, Iijima M, et al. Adult-onset type II citrullinemiaandidiopathic neonatal hepatitis causedby citrindeficiency: involvement of the aspartate glutamate carrier for urea synthesis and maintenance of the urea cycle. Mol Genet Metab 2004;81 Suppl 1:S20–6.
18. Pearson DL, Dawling S, Walsh WF, et al. Neonatal pulmonary hypertension – urea-cycle intermediates, nitric oxide production, and carbamoyl-phosphate synthetase function. N Engl J Med 2001;344:1832–8.
19. Summar M. Molecular genetic research into carbamyl phosphate synthetase i: molecular defects, prenatal diagnosis, and c DNA sequence. J Inherit Metab Dis 1998;21:30–9.
20. Summar ML, Hall LD, Eeds AM, et al. Characterization of genomic structure and polymorphisms in the human carbamyl phosphate synthetase I gene. Gene 2003;311:51–7.
21. Summar ML, Hall L, Christman B, et al. Environmentally determined genetic expression: clinical correlateswith molecular variants of carbamyl phosphate synthetase I. Mol Genet Metab 2004; 81 Suppl:12–19.
22. Summar ML, Gainer JV, Pretorius M, et al. Relationship between carbamoyl-phosphate synthetase genotype and systemic vascular function. Hypertension 2004;43:186–91.
23. Britton HG, Garcia-Espana A, Goya P, et al. Astructure-reactivity study of the binding of acetylglutamate to carbamoyl phosphate synthetase I. Eur J Biochem 1990;188:47–53.
24. Guy HI, Evans DR. Function of the major synthetase subdomains of carbamyl-phosphate synthetase. J Biol Chem 1996;271: 13762–9.
25. Guy HI, Evans DR. Substructure of the amidotransferase domain of mammalian carbamyl phosphate synthetase. J Biol Chem 1995;270:2190–7.
26. Mareya SM, Raushel FM. Mapping the structural domains of E. coli carbamoyl phosphate synthetase using limited proteolysis. Bioorg Med Chem 1995;3:525–32.
27. Powers-Lee SG, Corina K. Domain structure of rat liver carbamoyl phosphate synthetase I. J Biol Chem 1986;261:15349–52.
28. Rubio V, Cervera J. The carbamoyl-phosphate synthase family and carbamate kinase: structure-function studies [review]. Biochem Soc Trans1995;23:879–83.
29. Rubio V. Structure-function studies in carbamoyl phosphate synthetases [review]. Biochem Soc Trans 1993;21:198–202.
30. Tuchman M, McCullough BA, Yudkoff M. The molecular basis of ornithine transcarbamylase deficiency. Eur J Pediatr 2000;159 Suppl 3:S196–8.
31. Tuchman M, Jaleel N, Morizono H, et al. Mutations and polymorphisms in the humanornithine transcarbamylase gene. Hum Mutat 2002;19:93–107.
32. Yeh SJ, Hou WL, Tsai WS, et al. Ornithine transcarbamylase deficiency. J Formos Med Assoc 1997;96:43–5.
33. Solomonson LP, Flam BR, Pendleton LC, et al. The caveolar nitric oxide synthase/arginine regeneration system for NO production in endothelial cells. J Exp Biol 2003;206:2083–7.
34. Beaudet AL, Su TS, O’Brien WE, et al. Dispersion of argininosuccinate- synthetase-like human genes to multiple autosomes and the X chromosome. Cell 1982;30:287–93.
35. Takiguchi M, Matsubasa T, Amaya Y, Mori M. Evolutionary aspects of urea cycle enzyme genes. Bioessays 1989;10:163–6.
36. Abramson RD, Barbosa P, Kalumuck K, O’Brien WE. Characterization of the human argininosuccinate lyase gene and analysis of exon skipping. Genomics 1991;10:126–32.
37. Barbosa P, Cialkowski M, O’Brien WE. Analysis of naturally occurring and site-directed mutations in the argininosuccinate lyase gene. J Biol Chem 1991;266:5286–90.
38. Linnebank M, Tschiedel E, Haberle J, et al. Argininosuccinate lyase (ASL) deficiency: mutation analysis in 27 patients and a completed structure of the human ASL gene. Hum Genet 2002; 111:350–9.
39. Ash DE, Scolnick LR, Kanyo ZF, et al. Molecular basis of hyperargininemia: structure-function consequences of mutations in human liver arginase. Mol Genet Metab 1998;64:243–9.
40. Cederbaum SD, Spector EB. Arginase activity in fibroblasts. Am J Hum Genet 1978;30:91–2.
41. Cederbaum SD, Yu H, Grody WW, et al. Arginases I and II: do their functions overlap? Mol Genet Metab 2004;81 Suppl 1:S38–44.
42. Dizikes GJ, Grody WW, Kern RM, Cederbaum SD. Isolation of humanliver arginasec DNAand demonstration of nonhomology between the two human arginase genes. Biochem Biophys Res Commun 1986;141:53–9.
43. Dizikes GJ, Spector EB, Cederbaum SD. Cloning of rat liver arginase c DNA and elucidation of regulation of arginase gene expression in H4 rat hepatoma cells. Somat Cell Mol Genet 1986; 12:375–84.
44. Grody WW, Dizikes GJ, Cederbaum SD. Human arginase isozymes. Isozymes Curr Top Biol Med Res 1987;13:181–214.
45. Meurs H, Maarsingh H, Zaagsma J. Arginase and asthma: novel insights into nitric oxide homeostasis and airway hyperresponsiveness. Trends Pharmacol Sci 2003;24:450–5.
46. Ricciardolo FL. c NOS-i NOS paradigm and arginase in asthma. Trends Pharmacol Sci 2003;24:560–1.
47. Rudmann DG, Moore MW, Tepper JS, et al. Modulation of allergicinflammationinmicedeficient in TNFreceptors. Am JPhysiol Lung Cell Mol Physiol 2000;279:L1047–57.
48. Caldovic L, Tuchman M. N-acetylglutamate and its changing role through evolution. Biochem J 2003;372:279–90.
49. Caldovic L, Morizono H, Gracia PM, et al. Cloning and expression of the human N-acetylglutamate synthase gene. Biochem Biophys Res Commun 2002;299:581–6.
50. Caldovic L, Morizono H, Yu X, et al. Identification, cloning and expression of the mouse N-acetylglutamate synthase gene. Biochem J 2002;364:825–31.
51. Tuchman M, Holzknecht RA. Human hepatic N-acetylglutamate content and N-acetylglutamate synthase activity. Determination by stable isotope dilution. Biochem J 1990;271:325–9.
52. Ben Shalom E, Kobayashi K, Shaag A, et al. Infantile citrullinemia caused by citrin deficiency with increased dibasic amino acids. Mol Genet Metab 2002;77:202–8.
53. Naito E, Ito M, Matsuura S, et al. Type II citrullinaemia (citrin deficiency) in a neonate with hypergalactosaemia detected by mass screening. J Inherit Metab Dis 2002;25:71–6.
54. Ohura T, Kobayashi K, Abukawa D, et al. A novel inborn error of metabolism detected by elevated methionine and/or galactose in newborn screening: neonatal intrahepatic cholestasis caused by citrin deficiency. Eur J Pediatr 2003;162:317–22.
55. Tamamori A, Okano Y, Ozaki H, et al. Neonatal intrahepatic cholestasis caused by citrin deficiency: severe hepatic dysfunction in an infant requiring liver transplantation. Eur J Pediatr 2002; 161:609–13.
56. Yamaguchi N, Kobayashi K, Yasuda T, et al. Screening of SLC25A13 mutations in early and late onset patients with citrin deficiency and in the Japanese population: identification of two novel mutations and establishment of multiple DNA diagnosis methods for nine mutations. Hum Mutat 2002;19:122–30.
57. Steiner RD, Cederbaum SD. Laboratory evaluation of urea cycle disorders. J Pediatr 2001;138 Suppl 1:S21–9.
58. Summar M. Current strategies for the management of neonatal urea cycle disorders. J Pediatr 2001;138 Suppl 1:S30–9.
59. Tuchman M, Tsai MY, Holzknecht RA, Brusilow SW. Carbamyl phosphate synthetase and ornithine transcarbamylase activities in enzyme-deficient human liver measured by radiochromatography and correlated with outcome. Pediatr Res 1989;26:77–82.
60. Summar M, Pietsch J, Deshpande J, Schulman G. Effective hemodialysis and hemofiltration driven by an extracorporeal membrane oxygenation pump in infants with hyperammonemia. J Pediatr 1996;128:379–82.
61. Batshaw ML. Sodium benzoate and arginine: alternative pathway therapy in inborn errors of urea synthesis. Prog Clin Biol Res 1983;127:69–83.
62. Batshaw ML, Brusilow SW. Evidence of lack of toxicity of sodium phenylacetate and sodium benzoate in treating urea cycle enzymopathies. J Inherit Metab Dis 1981;4:231.
63. Batshaw ML, Brusilow SW. Treatment of hyperammonemic coma caused by inborn errors of urea synthesis. J Pediatr 1980; 97:893–900.
64. Brusilow SW, Valle DL, Batshaw M. New pathways of nitrogen excretion in inborn errors of urea synthesis. Lancet 1979;2:452–4.
65. Brusilow SW. Phenylacetylglutamine may replace urea as a vehicle for waste nitrogen excretion. Pediatr Res 1991;29:147–50.
66. Connelly A, Cross JH, Gadian DG, et al. Magnetic resonance spectroscopy shows increased brain glutamine in ornithine carbamoyl transferase deficiency. Pediatr Res 1993;33:77–81.
67. Willard-Mack CL, Koehler RC, Hirata T, et al. Inhibition of glutamine synthetase reduces ammonia-induced astrocyte swelling in rat. Neuroscience 1996;71:589–99.
68. Fujiwara M, Watanabe A, Shiota T, et al. Hyperammonemiainduced cytotoxic brain edema under osmotic opening of bloodbrain barrier in dogs. Res Exp Med (Berl) 1985;185:425–7.
69. Barr FE, Beverley H, Van Hook K, et al. Effect of cardiopulmonary bypass on urea cycle intermediates and nitric oxide levels after congenital heart surgery. J Pediatr 2003;142:26–30.
70. Williams SM, Ritchie MD, Phillips JA III, et al. Multilocus analysis of hypertension: a hierarchical approach. Hum Hered 2004;57:28–38.