Por favor, use este identificador para citar o enlazar este ítem:
http://repositorio.pediatria.gob.mx:8180/handle/20.500.12103/1207| Título : | Inborn errors of intermediary metabolism in critically III newborns in Mexico Inborn errors of intermediary metabolism in critically III newborns in Mexic |
| Creador: | Reyes González, Diana Ivonne |
| Nivel de acceso: | Open access |
| Palabras clave : | Errores innatos del metabolismo - Genética - Recién nacido - México lnborn errors of metabolism; neonatal intensive care unit; neonatal mortality; newborn screening neonates |
| Descripción : | lnborn errors of intermediary metabolism (IEiM) are complex diseases with high clinical heterogeneity and sorne 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 to 2025 newborns admitted to 35 intensive care units or emergency wards NICU/EW over a 6-year period in Mexico, in whom a metabolic disorder was clinically suspected; Of these 2025 sick newborns, 11 had an 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; and 1 each had 3-hydroxy-3-methylglutaric acidemia and 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 an IEiM, 7 died, making the mortality rate 64%. In conclusion, the differential diagnosis of newborns admitted to the NICU/EW must include IEiM, requiring systematic screening of this population. |
| Colaborador(es) u otros Autores: | Vela Amieva Marcela |
| Fecha de publicación : | 2014 |
| Tipo de publicación: | Otros |
| Formato: | |
| URI : | http://repositorio.pediatria.gob.mx:8180/handle/20.500.12103/1207 |
| Aparece en las colecciones: | Tesis |
Ficheros en este ítem:
| Fichero | Descripción | Tamaño | Formato | |
|---|---|---|---|---|
| tesis2014_85.pdf | 429.5 kB | Adobe PDF |  Visualizar/Abrir |
Los ítems de DSpace están protegidos por copyright, con todos los derechos reservados, a menos que se indique lo contrario.