Inborn errors of metabolism in a neonatology unit: impact and long-term results.
BACKGROUND
Inborn errors of metabolism (IEM) have greater repercussions in neonatology units. The goal of our study was to evaluate the impact of IEM in a neonatology unit and the outcome of these neonates.


METHODS
All patients with IEM admitted in our unit were evaluated during an 8-year period for specific diagnosis, clinical features, therapy and long-term neurodevelopment.


RESULTS
The study group was comprised of 31 infants, 18 of which required admission to the neonatal intensive care unit (NICU) (1.63% of income) due to severe symptoms. Twenty-two of the 31 had an earlier diagnosis and treatment due to expanded newborn screening, made from the third day of life. The most frequent diagnosis in the NICU, representing 66.66% (12/18), was diseases that cause an endogenous intoxication. Despite the diagnosis by tandem mass spectrometry, many of these patients had severe clinical symptoms prior to the screening results. Aggressive support was often necessary (extracorporeal removal therapy, mechanical ventilation). Death occurred generally in the first year of life (5/6). The death rate in the NICU was 10.3%. The survivors presented higher scores on the Psychomotor Development Index if the diagnosis of the disease was either made or helped by screening. This also depends on the type of disease.


CONCLUSIONS
Earlier diagnosis by expanded newborn screening and earlier treatment is essential in order to be able to prevent neurological sequelae.
Couce
Ma Luz
ML
Department of Pediatrics, Unit of Neonatology, Clinic University Hospital of Santiago, Santiago de Compostela, Spain. maria.luz.couce.pico@sergas.es
Baña
Ana
A
Bóveda
Ma Dolores
MD
Pérez-Muñuzuri
Alejandro
A
Fernández-Lorenzo
José Ramón
JR
Fraga
José Ma
JM
D006801:Humans; D015994:Incidence; D007231:Infant, Newborn; D007363:Intensive Care Units, Neonatal; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000628:therapy; D015997:Neonatal Screening; D011379:Prognosis; D012189:Retrospective Studies