Inborn Errors of Intermediary Metabolism in Critically Ill Mexican Newborns

• Autor(a) principal: Isabel,Ibarra-Gonález
• Data de Publicação: 2014
• Outros Autores: Cynthia,Fernández-Lainez, Diana,Reyes-González, Leticia,Belmont-Martínez, Sara,Guillén-López, Susana,Monroy-Santoyo, Marcela,Vela-Amieva
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Journal of Inborn Errors of Metabolism and Screening
• Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942014000100302
• topic: inborn errors of metabolism; neonatal intensive care unit; neonatal mortality; newborn screening; neonates

Abstract Inborn errors of intermediary metabolism (IEiM) are complex diseases with high clinical heterogeneity, and some patients who have severe enzyme deficiencies or are subjected to stress (catabolism/infections) actually decompensate in the neonatal period. In this study, we performed metabolic tests on 2025 newborns in Mexico admitted to 35 neonatal intensive care units or emergency wards (NICUs/EWs) over a 6-year period, in whom a metabolic disorder was clinically suspected. Of these 2025 newborns with sickness, 11 had IEiM, revealing a prevalence of 1:184. Clinical characteristics and outcomes of the newborns with confirmed IEiM are shown. Of these 11 patients, 4 had isolated methylmalonic acidemia, 3 had maple syrup urine disease, 2 had urea cycle disorders, 1 had 3-hydroxy-3-methylglutaric acidemia, and 1 had isovaleric acidemia. During the first week of life (average 3 days), all of these newborns presented with impaired alertness, hypotonia, feeding difficulties, and vomiting along with metabolic acidosis and hyperammonemia. Of the 11 newborns with IEiM, 7 died, leading to a mortality rate of 64%. In conclusion, the differential diagnosis of newborns admitted to the NICU/EW must include IEiM, requiring systematic screening of this population.