Skip to main content Accessibility help

We use cookies to distinguish you from other users and to provide you with a better experience on our websites. Close this message to accept cookies or find out how to manage your cookie settings.

Close cookie message
×
Hostname: page-component-78c5997874-8bhkd Total loading time: 0 Render date: 2024-11-09T14:45:09.499Z Has data issue: false hasContentIssue false

Chapter 38 - Urea cycle disorders

from Section IV - Metabolic liver disease

Published online by Cambridge University Press:  05 March 2014

By
Derek Wong  and
Stephen Cederbaum
Edited by
Frederick J. Suchy ,
Ronald J. Sokol  and
William F. Balistreri
Derek Wong
Affiliation:
Division of Medical Genetics, David Geffen School of Medicine at University of California Los Angeles, CA, USA
Stephen Cederbaum
Affiliation:
University of California Los Angeles, Los Angeles, CA, USA
Frederick J. Suchy
Affiliation:
University of Colorado Medical Center
Ronald J. Sokol
Affiliation:
University of Colorado Medical Center
William F. Balistreri
Affiliation:
University of Cincinnati College of Medicine
Get access

Summary

A summary is not available for this content so a preview has been provided. Please use the Get access link above for information on how to access this content.
Image of the first page of this content. For PDF version, please use the ‘Save PDF’ preceeding this image.'
Type
Chapter
Information
Liver Disease in Children , pp. 664 - 672
Publisher: Cambridge University Press
Print publication year: 2014

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

Krebs, HA, Henseleit, K. Untersuchungen uber die harnstoffbildung im tierkorper. Hoppe-Seyler Z Physiol Chem 1932;210:325–332.CrossRefGoogle Scholar
Batshaw, ML. Hyperammonemia. Curr Probl Pediatr 1984;14:1–69.Google ScholarPubMed
Brusilow, SW. Urea cycle disorders: clinical paradigm of hyperammonemic encephalopathy. Prog Liver Dis 1995;13:293–309.Google ScholarPubMed
Butterworth, RF. Effects of hyperammonaemia on brain function. J Inherit Metab Dis 1998;21(Suppl 1):6–20.CrossRefGoogle ScholarPubMed
Fujiwara, M. Role of ammonia in the pathogenesis of brain edema. Acta Medica Okayama 1986;40:313–320.Google ScholarPubMed
Takahashi, H, Koehler, RC, Hirata, T, et al. Restoration of cerebrovascular CO2 responsivity by glutamine synthesis inhibition in hyperammonemic rats. Circ Res 1992;71:1220–1230.CrossRefGoogle ScholarPubMed
Mustafa, A, Clarke, JT. Ornithine transcarbamoylase deficiency presenting with acute liver failure. J Inherit Metab Dis 2006;29:586.CrossRefGoogle ScholarPubMed
Faghfoury, H, Baruteau, J, de Baulny, HO, et al. Transient fulminant liver failure as an initial presentation in citrullinemia type I. Mol Genet Metab 2011;102:413–417.CrossRefGoogle ScholarPubMed
Fecarotta, S, Parenti, G, Vajo, P, et al. HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis-like presentation. J Inherit Metab Dis 2006;29:186–189.CrossRefGoogle Scholar
Mori, T, Nagai, K, Mori, M, et al. Progressive liver fibrosis in late-onset argininosuccinate lyase deficiency. Pediatr Dev Pathol 2002;5:597–601.CrossRefGoogle ScholarPubMed
Tuchman, M, Mauer, SM, Holzknecht, RA, et al. Prospective versus clinical diagnosis and therapy of acute neonatal hyperammonaemia in two sisters with carbamoyl phosphate synthetase deficiency. J Inherit Metab Dis 1992;15:269–277.CrossRefGoogle Scholar
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–S8.CrossRefGoogle ScholarPubMed
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;85:662–667.CrossRefGoogle Scholar
Batshaw, ML, Brusilow, SW. Valproate-induced hyperammonemia. Ann Neurol 1982;11:319–321.CrossRefGoogle ScholarPubMed
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 carbamoylphosphate synthetase.]Presse Med 1988;17:2063–2066.Google Scholar
Castro-Gago, M, Rodrigo-Saez, E, Novo-Rodriguez, I, et al. Hyper-aminoacidemia in epileptic children treated with valproic acid. Childs Nerv Syst 1990;6:434–436.CrossRefGoogle ScholarPubMed
Elgudin, L, Hall, Y, Schubert, D. Ammonia induced encephalopathy from valproic acid in a bipolar patient: case report. Int J Psychiatry Med 2003;33:91–96.CrossRefGoogle Scholar
Kugoh, T, Yamamoto, M, Hosokawa, K. Blood ammonia level during valproic acid therapy. Jpn J Psychiatry Neurol 1986;40:663–668.Google ScholarPubMed
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;17:1351–1353.CrossRefGoogle Scholar
Summar, ML, Dobbelaere, D, Bruslow, S, Lee, B. Diagnosis, symptoms, frequency and mortality of 260 patients with urea cycle disorders from a 21-year, multicentre study of acute hyperammonaemic episodes. Acta Paediatr 2008;97:1420–1425.CrossRefGoogle ScholarPubMed
Erez, A, Nagamani, SC, Lee, B. Argininosuccinate lyase deficiency: argininosuccinic aciduria and beyond. Am J Med Genet 2011;157:45–53.CrossRefGoogle Scholar
Ohura, T, Kobayashi, K, Tazawa, Y, et al. Clinical pictures of 75 patients with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). J Inherit Metab Dis 2007;30:139–144.CrossRefGoogle Scholar
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;47:333–341.CrossRefGoogle Scholar
Saheki, T, Kobayashi, K, Iijima, M, et al. Adult-onset type II citrullinemia and idiopathic neonatal hepatitis caused by citrin deficiency: involvement of the aspartate glutamate carrier for urea synthesis and maintenance of the urea cycle. Mol Genet Metab 2004;81(Suppl 1): S20–S26.CrossRefGoogle ScholarPubMed
Ben Shalom, E, Kobayashi, K, Shaag, A, et al. Infantile citrullinemia caused by citrin deficiency with increased dibasic amino acids. Mol Genet Metab 2002;77:202–208.CrossRefGoogle ScholarPubMed
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;25:71–76.CrossRefGoogle Scholar
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;161:609–613.CrossRefGoogle Scholar
Steiner, RD, Cederbaum, SD. Laboratory evaluation of urea cycle disorders. J Pediatr 2001;138(Suppl 1):S21–S29.CrossRefGoogle ScholarPubMed
Summar, M. Current strategies for the management of neonatal urea cycle disorders. J Pediatr 2001;138(Suppl 1):S30–S39.CrossRefGoogle ScholarPubMed
Summar, M, Pietsch, J, Deshpande, J, Schulman, G. Effective hemo-dialysis and hemofiltration driven by an extracorporeal membrane oxygenation pump in infants with hyperammonemia. J Pediatr 1996;128:379–382.CrossRefGoogle Scholar
Batshaw, ML. Sodium benzoate and arginine: alternative pathway therapy in inborn errors of urea synthesis. Prog Clin Biol Res 1983;127:69–83.Google ScholarPubMed
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.CrossRefGoogle ScholarPubMed
Batshaw, ML, Brusilow, SW. Treatment of hyperammonemic coma caused by inborn errors of urea synthesis. J Pediatr 1980;97:893–900.CrossRefGoogle ScholarPubMed
Brusilow, SW, Valle, DL, Batshaw, M. New pathways of nitrogen excretion in inborn errors of urea synthesis. Lancet 1979;2:452–454.CrossRefGoogle ScholarPubMed
Brusilow, SW. Phenylacetylglutamine may replace urea as a vehicle for waste nitrogen excretion. Pediatr Res 1991;29:147–150.CrossRefGoogle ScholarPubMed
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.CrossRefGoogle ScholarPubMed
Willard-Mack, CL, Koehler, RC, Hirata, T, et al. Inhibition of glutamine synthetase reduces ammonia-induced astrocyte swelling in rat. Neuroscience 1996;71:589–599.CrossRefGoogle ScholarPubMed
Caldovic, L, Morizono, H, Yevgeny, D, et al. Restoration of ureagenesis in N-acetylglutamate synthase deficiency by N-carbamylglutamate. J Pediatr 2004;145:552–554.CrossRefGoogle ScholarPubMed
Kuchler, G, Rabier, D, Poggi-Travert, F, et. al. Therapeutic use of carbamylglutamate in the case of carbamoyl-phosphate synthetase deficiency. J Inherit Metab Dis 1996;19:220–222.CrossRefGoogle ScholarPubMed
Fujiwara, M, Watanabe, A, Shiota, T, et al. Hyperammonemia-induced cytotoxic brain edema under osmotic opening of blood–brain barrier in dogs. Res Exp Med 1985;185:425–427.CrossRefGoogle ScholarPubMed
Morioka, D, Kasahara, M, Takada, Y, et al. Current role of liver transplantation for the treatment of urea cycle disorders: A review of the worldwide English literature and 13 cases at Kyoto University. Liver Transplant 2005;11:1332–1342.CrossRefGoogle Scholar
Campeuau, PM, Pivalezza, PJ, Miller, G, et al. Early orthotopic liver transplantation in urea cycle defects: Follow up of a developmental outcome study. Mol Genet Metab 2010;100:S84-S87.CrossRefGoogle Scholar
Rabier, D, Narcy, C, Bardet, J, et al. Arginine remains an essential amino acid after liver transplantation in urea cycle enzyme deficiencies. J Inherit Metab Dis 1991;14:277–280.CrossRefGoogle ScholarPubMed
Tuchman, M, Lee, B, Lichter-Konecki, U, et al. Cross-sectional multi-center study of patients with urea cycle disorders in the United States. Mol Genet Metab 2008;94:397–402.CrossRefGoogle Scholar
Gropman, AL, Fricke, ST, Seltzer, RR, et al. 1H MRS identifies symptomatic and asymptomatic subjects with partial ornithine transcarbamylase deficiency. Mol Genet Metab 2008;95:21–30.CrossRefGoogle ScholarPubMed
Gropman, AL, Gertz, B, Shattuck, K, et al. Diffusion tensor imaging detects areas of abnormal white matter microstructure in patients with partial ornithine transcarbamylase deficiency. Am J Neuroradiol 2010;31:1719–1723.CrossRefGoogle ScholarPubMed
Braissant, O. Ammonia toxicity to the brain: Effects on creatine metabolism and transport and protective roles of creatine. Mol Genet Metab 2010;100:S53–58.CrossRefGoogle ScholarPubMed
Meyburg, J, Das, AM, Hoerster, F, et al. One liver for four children: first clinical series of liver cell transplantation for severe neonatal urea cycle defects. Transplantation 2009;87:636–641.CrossRefGoogle ScholarPubMed

Save book to Kindle

To save this book to your Kindle, first ensure [email protected] is added to your Approved Personal Document E-mail List under your Personal Document Settings on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part of your Kindle email address below. Find out more about saving to your Kindle.

Note you can select to save to either the @free.kindle.com or @kindle.com variations. ‘@free.kindle.com’ emails are free but can only be saved to your device when it is connected to wi-fi. ‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.

Find out more about the Kindle Personal Document Service.

Available formats
×

Save book to Dropbox

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Dropbox.

Available formats
×

Save book to Google Drive

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Google Drive.

Available formats
×