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2022, Number 5

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Acta Pediatr Mex 2022; 43 (5)

Update for the diagnosis and treatment of acute hyperammonemia in patients with inborn errors of metabolism

López-Mejía L, Francisco-Revilla Estivill N, Guillén-López S, Carrillo-Nieto I, Fernández-Lainez C, Ibarra-González I, Vela-Amieva M, Belmont-Martínez L

Language: Spanish
References: 72
Page: 293-313
PDF size: 310.26 Kb.


ABSTRACT

Acute hyperammonemia (HAA) is a medical emergency, that cause neurological damage, complications or even death. HAA occurs most frequently in patients with inborn errors of metabolism (IEM), especially in events of metabolic decompensation, and require intensive care. The IEM that mainly cause HAA include; urea cycle defects, organic acidemias, fatty acid oxidation disorders and carnitine cycle defects. In HAA, the primary aim is to preserve life and the integrity of the central nervous system, decreasing blood ammonia levels to normal, with urgent medical treatment, individualized life support and nutrition. Knowledge of the available drugs, the ammonium removal methods, as well as the energy and protein requirements, supplements, cofactors and vitamins; is very important for individualize the medical and nutritional treatment according to their biochemical, clinical profiles and underlying disease. The objective of this work is to present current concepts regarding the treatment of HAA in patients with inborn errors of metabolism.


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