Abstract

MORA-BARRETO, Lina  and  SUAREZ-OBANDO, Fernando. DIAGNOSTIC APPROACH OF INBORN METABOLISM ERRORS IN THE NEONATAL INTENSIVE CARE UNIT: METABOLIC ACIDOSIS, HYPERAMMONEMIA AND HYPOGLYCEMIA. Biosalud [online]. 2017, vol.16, n.2, pp.83-95. ISSN 1657-9550.  https://doi.org/10.17151/biosa.2017.16.2.8.

Inborn metabolism errors of newborn babies are diseases that require early intervention since timely management allows the prevention of severe or fatal consequences. However, its diagnosis is difficult due to multiple non-specific clinical manifestations that accompany it and to various metabolic alterations that affect the reading of routine clinical laboratory studies. However, a systematic approach that takes into account the variations of the intermediate metabolism interpreted through basic laboratory tests allows reaching, in most cases, a correct diagnosis. The approach proposed here is based on the interpretation of three metabolic states: metabolic acidosis, hyperammonemia, and hypoglycemia and their relation to the results of laboratory tests that are available in most neonatal units. Various recommendations are presented regarding normal values, diagnostic flowcharts, and recommendations on taking and conservation of the samples.

Keywords : acidosis; hyperammonemia; hypoglycemia; brain diseases; metabolic; inborn; neonatology.

        · abstract in Spanish     · text in Spanish     · Spanish ( pdf )