title: Inborn errors of metabolism in a neonatology unit: impact and long-term results.
abstract: 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.
authors.affiliation: Department of Pediatrics, Unit of Neonatology, Clinic University Hospital of Santiago, Santiago de Compostela, Spain. maria.luz.couce.pico@sergas.es
authors.forename: Ma Luz
authors.initials: ML
authors.lastname: Couce
authors.forename: Ana
authors.initials: A
authors.lastname: Baña
authors.forename: Ma Dolores
authors.initials: MD
authors.lastname: Bóveda
authors.forename: Alejandro
authors.initials: A
authors.lastname: Pérez-Muñuzuri
authors.forename: José Ramón
authors.initials: JR
authors.lastname: Fernández-Lorenzo
authors.forename: José Ma
authors.initials: JM
authors.lastname: Fraga
mesh_terms: 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