HYPERAMMONEMIA IN NEONATOLOGY: DIAGNOSTIC DIFFICULTIES, MANAGEMENT FEATURES
https://doi.org/10.52485/19986173_2024_2_152
Abstract
There are primary and secondary hyperammonemia. Primary hyperammonemia is a hereditary disorder of the urea formation cycle. Secondary hyperammonemia can occur both in hereditary diseases (mitochondrial diseases, organic aciduria/aminoacidopathies) and in asphyxia suffered in childbirth, liver damage of various etiologies (toxic, infectious, etc.), extrahepatic portal hypertension, renal failure, infections caused by urease-producing microorganisms, diseases accompanied by increased catabolism, etc. transient nature. Regardless of the etiology, hyperammonemia can cause irreversible damage to brain cells, which determines the exceptional importance of early diagnosis and timely therapy.
About the Authors
N. G. Popova
Chita State Medical Academy; Chita Zabaikalsky regional Perinatal Center
Russian Federation
Russian Federation
39 a Gorky str., Chita, 672000;
16 Kohanskogo str., Chita, 672038
V. V. Kocherova
Chita State Medical Academy; Chita Zabaikalsky regional Perinatal Center
Russian Federation
Russian Federation
39 a Gorky str., Chita, 672000;
16 Kohanskogo str., Chita, 672038
M. V. Konteeva
Chita Zabaikalsky regional Perinatal Center
Russian Federation
Russian Federation
16 Kohanskogo str., Chita, 672038
References
1. Mayatepek E. Inborn errors of metabolism - early detection, key symptoms and therapeutic options. 2nd ed. Bremen, Germany: UNI-MED Science, 2017. 109
2. Walker V. Ammonia toxicity and its prevention in inherited defects of the urea cycle. Diabetes Obes. Metab. 2009. 11(9). 823-835. DOI: https://doi.org/10.1111/j.1463-1326.2009.01054.x; PMID: 19531057
3. Brar G., Thomas R., Bawle E.V., Delaney-Black V. Transient hyperammonemia in preterm infants with hypoxia. Pediatr. Res. 2004. 56. 671–679
4. Gropman A.L., Summar M., Leonard J.V. Neurological implications of urea cycle disorders. J. Inherit. Metab. Dis. 2007. 30 (6). 865–879
5. Haüssinger D. Nitrogen metabolism in liver: structural and functional organization and physiological relevance. Biochem. J. 1990. 267 (2). 281–290. DOI: https://doi.org/10.1042/bj2670281; PMID: 2185740
6. Weiner I.D., Verlander J.W. Recent advances in understanding renal ammonia metabolism and transport. Curr. Opin. Nephrol. Hypertens. 2016. 25 (5). 436–443. DOI: https://doi.org/10.1097/MNH.0000000000000255; PMID: 27367914
7. Dasarathy S., Mookerjee R.P., Rackayova V., Rangroo Thrane V., Vairappan B., Ott P. et al. Ammonia toxicity: from head to toe? Metab. Brain Dis. 2017. 32(2). 529-538. DOI: https://doi.org/10.1007/s11011-016-9938-3; PMID: 28012068
8. Häberle J. Clinical and biochemical aspects of primary and secondary hyperammonemic disorders. Arch. Biochem. Bioph 2013. 536 (2). 101-108. DOI: https://doi.org/10.1016/j.abb.2013.04.009
9. Braissant O., McLin V.A., Cudalbu C. Ammonia toxicity to the brain. J. Inherit Metab. Dis. 2013. 36 (4). 595–612. DOI: https://doi.org/10.1007/s10545-012-9546-2; PMID: 23109059
10. Maruyeva N.A., Shnayder N.A., Shirshov YU.A., Gol'tvanitsa G.A., Leont'yeva YE.V. Improving the provision of assistance to children with epilepsy and convulsive syndromes Zabaikalsky medical Bulletin. 2018. 17- 24 DOI: https://doi.org/10.52485/19986173_2018_1_17 in Russian
11. Robinson M.B., Batshaw M.L. Neurotransmitter alterations in congenital hyperammonemia. Ment. Retard. Dev. Disabil. Res. Rev. 1995. 1. 201–207
12. Butterworth R.F. Effects of hyperammonaemia onbrain function. J. Inherit. Metab. Dis. 1998. 21. 6–20. DOI: https://doi.org/10.1023/a:1005393104494
13. Duffy T., Plum F. Seizures and comatose states. In: Siegel G.J., Albers R.W., Katzman R. (eds). BasicNeurochemistry. Boston : Little Brown, 1981. 857 p
14. Barkovich A.J. Pediatric Neuroimaging. 4th ed. Philadelphia: Lippincott Williams & Wilkins, 2005. 206 p
15. Chung M.Y., Chen C.C., Huang L.T., Ko T.Y., Lin Y.J. Transient hyperammonemia in a neonate. Acta Pediatr. Taiwan. 2005. 46 (2). 94–96.
16. Degtyareva A.V., Sokolova YE.V., Zakharova YE.YU., Isayeva M.KH., Vysokikh M.YU., Ivanets T.YU. et all Hyperammonemia in the practice of a neonatologist. Russian Bulletin of Perinatology and Pediatrics. 2020.65 (6). 98–107. DOI: https://doi.org/10.21508/1027-4065-2020-65-6-98-107. in Russian
17. Kondo T., Ishida M., Kaneko S., Hirano T., Otani K., Fukushima Y. et al. Is 2-propyl-4-pentenoic acid, a hepatotoxic metabolite of valproate, responsible for valproate-induced hyperammonemia? Epilepsia. 1992. 33. 550–554
18. Laub M.C. Nutritional influence on serum ammonia in young patients receiving sodium valproate. Epilepsia. 1986. 27. 55-59.
19. Yokoyama S., Yasui-Furukori N., Nakagami T., Miyazaki K., Ishioka M., Tarakita N. et al. Association between the serum carnitine level and ammonia and valproic acid levels in patients with bipolar disorder. Ther. Drug Monit. 2020. 42. 766–770
20. Engel A.G., Rebouche C.J. Carnitine metabolism and inborn errors. J. Inherit. Metab. Dis. 1984. 7 (l). 38-43
21. Warter J.M., Brandt C., Marescaux C. et al. The renal origin of sodium valproate induced hyperammonemia in fasting humans // Neurology. 1983. 33. 1136–1140.
22. Sokolova YE.V., Degtyareva A.V., Ushakova L.V. et all Association of hyperammonemia with perinatal asphyxia in newborns. Neonatology: news, opinions, education. 2023.11 (1).10–18. DOI: https://doi.org/10.33029/2308-2402-2023-11-1-10-18 in Russian
23. Konecki U.L., Batshaw M.L. Inborn errors of urea synthesis. In: Swaiman K.F., Ashwal S., Ferrio D.M., Schor N.F. (eds.) Swaiman’s Pediatric Neurology principle and practice. 5th ed. Philadelphia : Elsevier/ Saunders; 2012. 362–363
24. Keiding S., Sorensen M., Bender D., et al. Brain metabolism of 13N-ammonia during acute hepatic encephalopathy in cirrhosis measured by positron emission tomography. Hepatology. 2006. 43. 42-50
25. Enns G.M. Inborn errors of metabolism masquerading as hypoxic-ischemic encephalopathy. NeoReviews. 2005. 6(12). 549-558
26. Aleksenko S.A., Koltunov A.S., Ageyeva YE.A., Sergeyeva A.YU. Comprehensive assessment of the effectiveness of Remaxol in patients with steatohepatitis with hyperammonemia. Experimental and clinical pharmacology. 2020. 83 (5). 24-28. DOI: https://doi.org/10.30906/0869-2092-2020-83-5-24-28 in Russian.
Review
For citations:
Popova N.G., Kocherova V.V., Konteeva M.V. HYPERAMMONEMIA IN NEONATOLOGY: DIAGNOSTIC DIFFICULTIES, MANAGEMENT FEATURES. Transbaikalian Medical Bulletin. 2024;(2):152-160. (In Russ.) https://doi.org/10.52485/19986173_2024_2_152
Views:
183
Email this article 