title: Clinical characteristics of adult patients with inborn errors of metabolism in Spain: A review of 500 cases from university hospitals.
abstract: Patients with inborn errors of metabolism (IEMs) have become an emerging and challenging group in the adult healthcare system whose needs should be known in order to implement appropriate policies and to adapt adult clinical departments. We aimed to analyze the clinical characteristics of adult patients with IEMs who attend the most important Spanish hospitals caring for these conditions. A cohort study was conducted in 500 patients, categorized by metabolic subtype according to pathophysiological classification. The most prevalent group of IEMs was amino acid disorders, with 108 (21.6%) patients diagnosed with phenylketonuria. Lysosomal storage disorders were the second group, in which 32 (6.4%) and 25 (5%) patients had Fabry disease and Gaucher disease respectively. The great clinical heterogeneity, the significant delay in diagnosis after symptom onset, the existence of some degree of physical dependence in a great number of patients, the need for a multidisciplinary and coordinated approach, and the lack of specific drug treatment are common features in this group of conditions.
authors.affiliation: Errores Congénitos del Metabolismo del Adulto, Unidad de Enfermedades Minoritarias, Hospital Universitario Vall d'Hebron, CSUR de Errores Congénitos del Metabolismo, Barcelona, Spain.
authors.forename: J
authors.initials: J
authors.lastname: Pérez-López
authors.affiliation: Servicio de Medicina Interna, Hospital Universitario de Cruces, CSUR de Errores Congénitos del Metabolismo, Baracaldo, Bizkaia, Spain.
authors.forename: L
authors.initials: L
authors.lastname: Ceberio-Hualde
authors.affiliation: Unidad de Enfermedades Minoritarias, Área de Medicina Interna en la Unidad Clínica de Atención Médica Integral (UCAMI), Hospital Virgen del Rocío, Sevilla, Spain.
authors.forename: J S
authors.initials: JS
authors.lastname: García-Morillo
authors.affiliation: Servicio de Medicina Interna, Grupo de Enfermedades Minoritarias, Hospital Clínic, CIBERER, Barcelona, Spain.
authors.forename: J M
authors.initials: JM
authors.lastname: Grau-Junyent
authors.affiliation: Unidad de Enfermedades Metabólicas Congénitas, Servicio de Medicina Interna, Hospital Clínico Universitario de Santiago, CSUR de Errores Congénitos del Metabolismo, Santiago de Compostela, Spain.
authors.forename: A
authors.initials: A
authors.lastname: Hermida Ameijeiras
authors.affiliation: Servicio de Medicina Interna, Hospital Central de la Cruz Roja, Madrid, Spain.
authors.forename: M
authors.initials: M
authors.lastname: López-Rodríguez
authors.affiliation: Servicio de Medicina Interna, Grupo de Enfermedades Minoritarias, Hospital Clínic, CIBERER, Barcelona, Spain.
authors.forename: J C
authors.initials: JC
authors.lastname: Milisenda
authors.affiliation: Errores Congénitos del Metabolismo del Adulto, Unidad de Enfermedades Minoritarias, Hospital Universitario Vall d'Hebron, CSUR de Errores Congénitos del Metabolismo, Barcelona, Spain.
authors.forename: M
authors.initials: M
authors.lastname: Moltó Abad
authors.affiliation: Servicio de Medicina Interna, Hospital Universitario 12 de Octubre, CSUR de Errores Congénitos del Metabolismo, Madrid, Spain.
authors.forename: M
authors.initials: M
authors.lastname: Morales-Conejo
authors.affiliation: Servicio de Medicina Interna, Hospital Universitario Ramón y Cajal, CSUR de Errores Congénitos del Metabolismo, Madrid, Spain.
authors.forename: J J
authors.initials: JJ
authors.lastname: Nava Mateos
keywords: Adulthood; Clinical characteristics; Inborn errors of metabolism