title: Selective Screening for Metabolic Disorders in the Slovenian Pediatric Population.
abstract: BACKGROUND
  Inborn errors of metabolism (IEM) are disorders with a block in the metabolic pathway caused by a genetic defect of a specific enzyme. Although each of these diseases is quite rare, as a group they account for a significant proportion of newborn and childhood morbidity and mortality. Early diagnosis is important to prevent complications or even death of the child. Selective screening is an important diagnostic tool for the diagnosis of IEM.
  
  
  METHODS
  In Slovenia, symptomatic patients with suspected IEM are referred to the University Children's Hospital Ljubljana. Techniques used for selective screening are gas chromatography-mass spectrometry, ion exchange chromatography-post-column derivatization, liquid chromatography-tandem mass spectrometry and isoelectric focusing. Fluorimetric method is used for enzyme activity measurement.
  
  
  RESULTS
  There are 168 patients with amino and organic acidemias, 5 patients with disorders in fatty acids metabolism, 1 patient with a congenital disorder of glycosylation, 42 patients with Fabry disease (of which 37 are adult) and 20 patients with Gaucher disease (of which 18 are adult) in the Slovenian Register for Rare Diseases.
  
  
  CONCLUSIONS
  In Slovenia, management of patients with IEM is centralized at the University Children's Hospital, with the exception of adult patients with Fabry and Gaucher disease. The team work is well organized with close cooperation between the laboratory and pediatricians specialized in metabolic disorders. According to the known frequencies of IEM from the literature, we would expect more positive results than obtained. To evaluate these results, we are planning to perform a pilot study on expanded newborn screening.
authors.affiliation: Unit for Special Laboratory Diagnostics, University Children's Hospital, University Medical Centre Ljubljana, Slovenia.
authors.forename: Barbka Repič
authors.initials: BR
authors.lastname: Lampret
authors.affiliation: Unit for Special Laboratory Diagnostics, University Children's Hospital, University Medical Centre Ljubljana, Slovenia.
authors.forename: Simona
authors.initials: S
authors.lastname: Murko
authors.affiliation: Department of Endocrinology, Diabetes and Metabolic Diseases, University Children's Hospital, University Medical Centre Ljubljana, Slovenia.
authors.forename: Mojca Žerjav
authors.initials: MŽ
authors.lastname: Tanšek
authors.affiliation: Unit for Special Laboratory Diagnostics, University Children's Hospital, University Medical Centre Ljubljana, Slovenia.
authors.forename: Katarina Trebušak
authors.initials: KT
authors.lastname: Podkrajšek
authors.affiliation: Unit for Special Laboratory Diagnostics, University Children's Hospital, University Medical Centre Ljubljana, Slovenia.
authors.forename: Maruša
authors.initials: M
authors.lastname: Debeljak
authors.affiliation: Department of Endocrinology, Diabetes and Metabolic Diseases, University Children's Hospital, University Medical Centre Ljubljana, Slovenia.
authors.forename: Andraž
authors.initials: A
authors.lastname: Šmon
authors.affiliation: Department of Endocrinology, Diabetes and Metabolic Diseases, University Children's Hospital, University Medical Centre Ljubljana, Slovenia; Department of Pediatrics, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.
authors.forename: Tadej
authors.initials: T
authors.lastname: Battelino
keywords: inborn errors of metabolism; metabolic disorders; pediatric population; selective screening