Hyperammonemia: Multimedia

References

1. Bosoi CR, Rose CF. Identifying the direct effects of ammonia on the brain. Metab Brain Dis. Mar 2009;24(1):95-102. [Medline].

2. [Guideline] Moeschler JB, Shevell M. Clinical genetic evaluation of the child with mental retardation or developmental delays. Pediatrics. Jun 2006;117(6):2304-16. [Medline]. [Full Text].

3. 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. Mar 15 2009;87(5):636-41. [Medline].

4. Albrecht J. Roles of neuroactive amino acids in ammonia neurotoxicity. J Neurosci Res. Jan 15 1998;51(2):133-8. [Medline].

5. Bachmann C. Outcome and survival of 88 patients with urea cycle disorders: a retrospective evaluation. Eur J Pediatr. Jun 2003;162(6):410-6. [Medline].

6. Bachmann C, Braissant O, Villard AM, Boulat O, Henry H. Ammonia toxicity to the brain and creatine. Mol Genet Metab. Apr 2004;81 Suppl 1:S52-7. [Medline].

7. Belanger-Quintana A, Martinez-Pardo M, Garcia MJ, et al. Hyperammonaemia as a cause of psychosis in an adolescent. Eur J Pediatr. Nov 2003;162(11):773-5. [Medline].

8. Berry GT, Steiner RD. Long-term management of patients with urea cycle disorders. J Pediatr. Jan 2001;138(1 Suppl):S56-60; discussion S60-1. [Medline].

9. Cohn RM, Roth KS. Hyperammonemia, bane of the brain. Clin Pediatr (Phila). Oct 2004;43(8):683-9. [Medline].

10. Felipo V, Hermenegildo C, Montoliu C, Llansola M, Minana MD. Neurotoxicity of ammonia and glutamate: molecular mechanisms and prevention. Neurotoxicology. Aug-Oct 1998;19(4-5):675-81. [Medline].

11. Felipo V, Kosenko E, Minana MD, Marcaida G, Grisolia S. Molecular mechanism of acute ammonia toxicity and of its prevention by L-carnitine. Adv Exp Med Biol. 1994;368:65-77. [Medline].

12. Guffon N, Schiff M, Cheillan D, et al. Neonatal hyperammonemia: the N-carbamoyl-L-glutamic acid test. J Pediatr. Aug 2005;147(2):260-2. [Medline].

13. Jackson MJ, Beaudet AL, O'Brien WE. Mammalian urea cycle enzymes. Annu Rev Genet. 1986;20:431-64. [Medline].

14. Kosenko E, Kaminski Y, Lopata O, Muravyov N, Felipo V. Blocking NMDA receptors prevents the oxidative stress induced by acute ammonia intoxication. Free Radic Biol Med. Jun 1999;26(11-12):1369-74. [Medline].

15. Marcaida G, Felipo V, Hermenegildo C, Minana MD, Grisolia S. Acute ammonia toxicity is mediated by the NMDA type of glutamate receptors. FEBS Lett. Jan 13 1992;296(1):67-8. [Medline].

16. McBride KL, Miller G, Carter S, et al. Developmental outcomes with early orthotopic liver transplantation for infants with neonatal-onset urea cycle defects and a female patient with late-onset ornithine transcarbamylase deficiency. Pediatrics. Oct 2004;114(4):e523-6. [Medline].

17. Miga DE, Roth KS. Hyperammonemia: the silent killer. South Med J. Jul 1993;86(7):742-7. [Medline].

18. Norenberg MD. Astroglial dysfunction in hepatic encephalopathy. Metab Brain Dis. Dec 1998;13(4):319-35. [Medline].

19. Norenberg MD, Rama Rao KV, Jayakumar AR. Ammonia neurotoxicity and the mitochondrial permeability transition. J Bioenerg Biomembr. Aug 2004;36(4):303-7. [Medline].

20. Ott P, Clemmesen O, Larsen FS. Cerebral metabolic disturbances in the brain during acute liver failure: from hyperammonemia to energy failure and proteolysis. Neurochem Int. Jul 2005;47(1-2):13-8. [Medline].

21. Rama Rao KV, Jayakumar AR, Norenberg DM. Ammonia neurotoxicity: role of the mitochondrial permeability transition. Metab Brain Dis. Jun 2003;18(2):113-27. [Medline].

22. Riordan SM, Williams R. Treatment of hepatic encephalopathy. N Engl J Med. Aug 14 1997;337(7):473-9. [Medline].

23. Snyder MJ, Bradford WD, Kishnani PS, Hale LP. Idiopathic hyperammonemia following an unrelated cord blood transplant for mucopolysaccharidosis I. Pediatr Dev Pathol. Jan-Feb 2003;6(1):78-83. [Medline].

24. Steiner RD, Cederbaum SD. Laboratory evaluation of urea cycle disorders. J Pediatr. Jan 2001;138(1 Pt 2):S21-S29. [Medline].

25. Tofteng F, Hauerberg J, Hansen BA, et al. Persistent arterial hyperammonemia increases the concentration of glutamine and alanine in the brain and correlates with intracranial pressure in patients with fulminant hepatic failure. J Cereb Blood Flow Metab. Jan 2006;26(1):21-7. [Medline].

Further Reading

Keywords

hyperammonemia, elevated serum ammonia level, ammoniemia, elevated ammonia levels, urea, adult-onset genetic disorders of the urea cycle, alpha-amino group, a-amino group, hepatic urea cycle, waste nitrogen, extrahepatic tissues, mitochondrial dysfunction, N -acetylglutamate, NAG, adenosine diphosphate, ADP, adenosine triphosphate, ATP, total free ammonia, glutamine, N -methyl D-aspartate, NMDA, gamma-aminobutyric acid, GABA, astroglial glutamate transporter molecules, astrocytes, membrane permeability transition phenomenon, hepatic encephalopathy, ornithine transcarbamylase deficiency, OTC, hepatic necrosis, N -acetylglutamate synthetase, arginase deficiency, carbamyl phosphate synthetase, CPS, citrullinemia, argininosuccinic acid synthase deficiency, citrullinuria, argininosuccinate lyase deficiency, ASA, argininosuccinic aciduria, argininosuccinase deficiency, hyperargininemia, familial argininemia

Contributor Information and Disclosures

Author

Karl S Roth, MD, Professor and Chair, Department of Pediatrics, Creighton University School of Medicine
Karl S Roth, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Pediatrics, American College of Nutrition, American Pediatric Society, American Society for Clinical Nutrition, American Society of Nephrology, Association of American Medical Colleges, Medical Society of Virginia, New York Academy of Sciences, Sigma Xi, Society for Pediatric Research, and Southern Society for Pediatric Research
Disclosure: MDS Pharma Salary Employment

Medical Editor

Robert D Steiner, MD, Professor, Departments of Pediatrics and Molecular and Medical Genetics, Vice Chair for Research, Department of Pediatrics, Oregon Health & Science University; Director and Consulting Staff, Metabolic Bone Disease Clinic, Shriner's Hospital and Doernbecher Children's Hospital; Co-Director: Pediatric and Child Health Research, Oregon Clinical and Translational Research Institute (CTSA).
Robert D Steiner, MD is a member of the following medical societies: American Academy of Pediatrics, American Association for the Advancement of Science, American College of Medical Genetics, American Society of Human Genetics, Oregon Medical Association, Society for Inherited Metabolic Disorders, Society for Pediatric Research, Society for the Study of Inborn Errors of Metabolism, and Western Society for Pediatric Research
Disclosure: Genzyme Honoraria Speaking and teaching; Genzyme Grant/research funds Other; Shire Honoraria Speaking and teaching; Actelion Honoraria Speaking and teaching; Biomarin Honoraria Speaking and teaching; Biomarin Consulting fee Consulting

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Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
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Managing Editor

Leonard G Feld, MD, PhD, MMM, FAAP, Sara H Bissell and Howard C Bissell Endowed Chair in Pediatrics, Chief Medical Officer, Levine Children's Hospital, Carolinas Medical Center
Leonard G Feld, MD, PhD, MMM, FAAP is a member of the following medical societies: American Academy of Pediatrics, American College of Physician Executives, American Society of Nephrology, American Society of Pediatric Nephrology, International Society of Nephrology, and Juvenile Diabetes Foundation International
Disclosure: Nothing to disclose.

CME Editor

Paul D Petry, DO, FACOP, FAAP, Consulting Staff, Freeman Pediatric Care, Freeman Health System
Paul D Petry, DO, FACOP, FAAP is a member of the following medical societies: American Academy of Osteopathy, American Academy of Pediatrics, American College of Osteopathic Pediatricians, and American Osteopathic Association
Disclosure: Nothing to disclose.

Chief Editor

Bruce Buehler, MD, Professor, Department of Pediatrics, Pathology and Microbiology, Executive Director, Hattie B Munroe Center for Human Genetics and Rehabilitation, University of Nebraska Medical Center
Bruce Buehler, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Pediatrics, American Association on Mental Retardation, American College of Medical Genetics, American College of Physician Executives, American Medical Association, and Nebraska Medical Association
Disclosure: Nothing to disclose.