title: [Inherited metabolic disorders in pediatric emergency services].
abstract: BACKGROUND
  Advances in the early diagnosis and treatment have led to improved survival, and a better quality of life for patients with inherited metabolic disorders (IMD). They can go to the Pediatric Emergency Services (PES) for reasons unrelated to their disease. The purpose of this study was to review the characteristics of visitors to the PES of these patients in a tertiary hospital.
  
  
  METHODS
  A retrospective observational study was conducted on all visits from patients with IMD to the PES of Hospital Infantil La Paz over the years 2011 and 2012. IMD type, complaint, duration of symptoms, need for hospitalization, and presence of metabolic decompensation was recorded.
  
  
  RESULTS
  A total of 107 visits were analyzed, with the most frequent reason being for consultation of respiratory processes (30.8%). When the consultation was for vomiting, patients with protein-related disorders were those who delayed less in going to PES. One third of visitors were admitted, half of them due to metabolic decompensation of the underlying pathology.
  
  
  CONCLUSIONS
  Patients with IMD came to PES for many different reasons, which in some cases were the cause or consequence of an acute metabolic decompensation that led to hospitalization. Being diseases with low prevalence, it would be useful to have diagnostic and therapeutic protocols in order to provide optimal care.
authors.affiliation: Servicio de Urgencias Pediátricas, Hospital Infantil La Paz, Madrid, España. Electronic address: malacatin@hotmail.com.
authors.forename: M A
authors.initials: MA
authors.lastname: Molina Gutiérrez
authors.affiliation: Servicio de Urgencias Pediátricas, Hospital Infantil La Paz, Madrid, España.
authors.forename: R
authors.initials: R
authors.lastname: López López
authors.affiliation: Servicio de Nutrición y Enfermedades Metabólicas, Hospital Infantil La Paz, Madrid, España.
authors.forename: A
authors.initials: A
authors.lastname: Morais López
authors.affiliation: Servicio de Urgencias Pediátricas, Hospital Infantil La Paz, Madrid, España.
authors.forename: M
authors.initials: M
authors.lastname: Bueno Barriocanal
authors.affiliation: Servicio de Gastroenterología Pediátrica, Hospital Infantil La Paz, Madrid, España.
authors.forename: E
authors.initials: E
authors.lastname: Martínez Ojinaga Nodal
authors.affiliation: Servicio de Urgencias Pediátricas, Hospital Infantil La Paz, Madrid, España.
authors.forename: A M
authors.initials: AM
authors.lastname: Alcolea Sánchez
authors.affiliation: Servicio de Urgencias Pediátricas, Hospital Infantil La Paz, Madrid, España.
authors.forename: S
authors.initials: S
authors.lastname: García García
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D004632:Emergency Medical Services / Q000706:statistics & numerical data*; D006760:Hospitalization / Q000706:statistics & numerical data; D006801:Humans; D007223:Infant; D008659:Metabolic Diseases / Q000453:epidemiology* / Q000235:genetics*; D012189:Retrospective Studies
keywords: Descompensación metabólica; Enfermedades metabólicas congénitas; Inherited metabolic disorders; Metabolic decompensation; Pediatric emergency services; Servicios de urgencias pediátricas