Arnold-Almaraz K, Olivares-Sandoval Z, Revilla-Estivill NF, Ibarra-González I, Belmont-Martínez L, Vela-Amieva M

Language: Spanish
References: 31
Page: 313-324
PDF size: 104.71 Kb.

ABSTRACT

Hyperammonemia is the chronic or acute increase of seric ammonium. It is associated with a high morbi-mortality. Hyperammonemia is a very frequent biochemical problem in patients with inborn metabolic diseases, especially in those with urea cycle disorders, disorders of leucine catabolism, and propionic or methylmalonic acidemia. It can also be present in several non congenital dysfunctions. It should be treated and corrected immediately, lest it causes severe and irreversible neurological damage leading to intellectual and motor disability. The management of these patients requires a combination of medical and dietetic treatment. The priority is to normalize the ammonium concentrations as quickly as possible,. The treatment has two phases: acute and chronic. The chronic treatment is usually long term and in many occasions, for life. Basically it requires on nutritional recommendations. The objective of this review is to offer the pediatrician a current guide for the treatment of patients with congenital hyperammonemia.

REFERENCES

1. Summerskill WHJ, Wolpert E. Ammonia metabolism in the gut. Am J Clin Nutr 1970;23:633-9.

2. Olde Damink SW, Deutz NE, Dejong CH, Soeters PB, Jalan R. Interorgan ammonia metabolism in liver failure. Neurochem Int 2002;41(2-3):177-88.

3. Colombo JP. Congenital hyperammonemia. Int Pediatr 1994;9(Suppl.2):17-26.

4. Meijer AJ, Lamers WH, Chamuleau R. Nitrogen metabolism and ornithine cycle function. Physiol Rev 1990;70:701-48.

5. Hartmann F, Plauth M. Intestinal glutamine metabolism. Metabolism 1989;38(Suppl 1):18-24.

6. Pintos G, Briones MP, Marchante C, Sanjurjo P, Vilaseca MA. Protocolo para el diagnóstico, tratamiento y seguimiento de los trastornos del ciclo de la urea. Anales Españoles de Pediatría 1997;89(Suppl):1-8.

7. Colombo JP, Peheim E, Kretschmer R, Dauwalder H, Sidiropoulos D. Plasma ammonia concentrations in newborn and children. Clin Chim Acta 1984;38:283-91.

8. Barsotti RJ. Measurement of ammonia in blood. J Pediatr 2001;138(1):S11-20.

9. Gerron GG, Ansley JD, Isaacs JW, Kutner MH, Rudman D. Technical pitfalls in measurement of venous plasma NH3 concentration. Clin Chem 1976;22:663-6.

10. Summar M, Tuchman M. Proceeding of a consensus conference for the manamagement of patients with urea cycle disorders. J Pediatr 2001;138(1):S 9.

11. Brusilow SW, Valle DW, Bathshaw ML. New pathways of nitrogen excretion in inborn errors of urea synthesis. Lancet 1979;1:452-4.

12. Brusilow SW, Danney M, Waber LJ, et al. Treatment of episodic hyperammonemia in children with inborn errors of urea synthesis. N Engl J Med 1984;310:1630-4.

13. Gattey SJ, Sherratt HSA. The synthesis of hippurate from benzoate and glycine by rat liver mitochondria. Biochem J 1997;166:39-47.

14. James MO, Smith RL, Williams RT, Reidenberg M. The conjugation of phenylacetic acid in man, subhuman primates and some non- primate species. Proc R Soc Lond 1972;182:25-35

15. Uribe M, Farca A. Tratamiento de la encefalopatía hepática aguda. En: Uribe M, Guevara L. Encefalopatia y coma hepático. Edit. Salvat, México 1982;pp86-8.

16. Bown RL, Gibson JA, Salden GE, Hicks B, Dawson AM. Effects of lactulose and other laxatives on ileal and colonic pH as measured by a radiotelemetry device. Gut 1974;15:999-1004.

17. Pirote J, Guffens JM, Devos J. Comparative study of basal ammonemia and of oral induced hyperammonemia in chronic portal systemic encephalopathy treated with neomycin, lactulose and association of neomycin and lactulose. Digestion 1979;10:435-44.

18. Helewski KJ, Kowalczyk-Ziomek GI, Konecki JJ. Therapeutic management of hepatic encephalopathy. Wiad Lek 2002;55(5-6);301-9

19. Scaglia F, Brunetti-Pierri N, Kleppe S, Marini J, Carter S, Garlick P, Jarro F, O´Brien W, Lee B. Clinical consequences of urea cycle enzyme deficiencies and potencial links to arginine and nitric oxide metabolism. J Nutr 2004;134(10 Suppl):2775S-82S.

20. Wendel U, Eissler A, Sperl W, Schadewaldt P. On the differences between urinary metabolite excretion and odd-numbered fatty acid production in propionic and methylmalonic acidaemias. J Inher Metab Dis 1995;18:584-91.

21. Wagner AF, Folkers K. Quasi-Vitamins. En: Combs GF. The Vitamins: Fundamental Aspects in Nutrition and Health, San Diego, California. Academic Press 1992;pp403-11.

22. Wiegand C, Thompson T, Bock GH, Mathis RK, Kjellstrand CM, Mauer SM. The management of life-threatening hyperammonemia: a comparison of several therapeutic modalities. J Pediatr 1980;96:142-4.

23. Brusilow SW, Horwich AL. Urea cycle enzymes. En: Scriver CR, Beaudet AL, Sly WS, Valle D, Eds. The Metabolic and Molecular Bases of Inherited Disease. 8th ed, New York. Mc Graw Hill Inc. 2001;pp1909-63.

24. Brusilow SW. Treatment of urea cycle disorders. En: Desnick RJ, Ed. Treatment of Genetic Diseases. New York, Churchill Livingstone. 1991;pp79-94

25. Schaefer F, Straube E, Oh J, Mehls O, Mayatepek E. Dialysis in neonates with inborn errors of metabolism. Nephrol Dial Transplant 1999;14:910-8.

26. Wong KY, Wong SN, Lam SY Tam S, Tsoi NS. Ammonia clearance by peritoneal dialysis and continuous arteriovenous hemodiafiltration. Pediatr Nephrol 1998;12:589-91.

27. Picca S, Dionisi-Vici C, Abeni D, Pastore A, Rizzo C, Orzalesi M, Sabetta G, Rizzoni G, Bartuli A. Extracorporeal dialysis in neonatal hyperammonemia: modalities and prognostic indicators. Pediatr Nephrol 2001;16:862-7.

28. Msall M, Batshaw ML, Suss R, Bruilow SW, Mellits ED. Neurologic outcome in children with inborn errors of urea synthesis. N Engl J Med 1984;310:1500-5.

29. Fernandes J, Saudubray JM, Van den Berghe G. Inborn Metabolic Diseases: Diagnosis and Treatment. Edit. Springer – Verlag, 3ra edición, New York 2000;p218.

30. Endo F, Matsura T, Yanagita K, Matsuda I. Clinical manifestations of inborn errors of the urea cycle and related metabolic disorders during childhood. J Nutr 2004;134(6 Suppl):1605-9.

31. Acosta Phyllis B, Yannicelli S. Nutrition Support Protocols. The Ross Metabolic Formula System. 3ra Ed. U.S.A. Ross Laboratories. 1997;p459.