title: Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients.
abstract: BACKGROUND
  Propionic acidemia is an inherited disorder caused by deficiency of propionyl-CoA carboxylase. Although it is one of the most frequent organic acidurias, information on the outcome of affected individuals is still limited.
  
  
  METHODS
  Clinical and outcome data of 55 patients with propionic acidemia from 16 European metabolic centers were evaluated retrospectively. 35 patients were diagnosed by selective metabolic screening while 20 patients were identified by newborn screening. Endocrine parameters and bone age were evaluated. In addition, IQ testing was performed and the patients' and their families' quality of life was assessed.
  
  
  RESULTS
  The vast majority of patients (>85%) presented with metabolic decompensation in the neonatal period. Asymptomatic individuals were the exception. About three quarters of the study population was mentally retarded, median IQ was 55. Apart from neurologic symptoms, complications comprised hematologic abnormalities, cardiac diseases, feeding problems and impaired growth. Most patients considered their quality of life high. However, according to the parents' point of view psychic problems were four times more common in propionic acidemia patients than in healthy controls.
  
  
  CONCLUSIONS
  Our data show that the outcome of propionic acidemia is still unfavourable, in spite of improved clinical management. Many patients develop long-term complications affecting different organ systems. Impairment of neurocognitive development is of special concern. Nevertheless, self-assessment of quality of life of the patients and their parents yielded rather positive results.
authors.affiliation: Labor für Klinische Biochemie und Stoffwechsel, Zentrum für Kinder- und Jugendmedizin, Universitätsklinikum Freiburg, Freiburg, Germany.
authors.forename: Sarah C
authors.initials: SC
authors.lastname: Grünert
authors.forename: Stephanie
authors.initials: S
authors.lastname: Müllerleile
authors.forename: Linda
authors.initials: L
authors.lastname: De Silva
authors.forename: Michael
authors.initials: M
authors.lastname: Barth
authors.forename: Melanie
authors.initials: M
authors.lastname: Walter
authors.forename: Kerstin
authors.initials: K
authors.lastname: Walter
authors.forename: Thomas
authors.initials: T
authors.lastname: Meissner
authors.forename: Martin
authors.initials: M
authors.lastname: Lindner
authors.forename: Regina
authors.initials: R
authors.lastname: Ensenauer
authors.forename: René
authors.initials: R
authors.lastname: Santer
authors.forename: Olaf A
authors.initials: OA
authors.lastname: Bodamer
authors.forename: Matthias R
authors.initials: MR
authors.lastname: Baumgartner
authors.forename: Michaela
authors.initials: M
authors.lastname: Brunner-Krainz
authors.forename: Daniela
authors.initials: D
authors.lastname: Karall
authors.forename: Claudia
authors.initials: C
authors.lastname: Haase
authors.forename: Ina
authors.initials: I
authors.lastname: Knerr
authors.forename: Thorsten
authors.initials: T
authors.lastname: Marquardt
authors.forename: Julia B
authors.initials: JB
authors.lastname: Hennermann
authors.forename: Robert
authors.initials: R
authors.lastname: Steinfeld
authors.forename: Skadi
authors.initials: S
authors.lastname: Beblo
authors.forename: Hans-Georg
authors.initials: HG
authors.lastname: Koch
authors.forename: Vassiliki
authors.initials: V
authors.lastname: Konstantopoulou
authors.forename: Sabine
authors.initials: S
authors.lastname: Scholl-Bürgi
authors.forename: Agnes
authors.initials: A
authors.lastname: van Teeffelen-Heithoff
authors.forename: Terttu
authors.initials: T
authors.lastname: Suormala
authors.forename: Wolfgang
authors.initials: W
authors.lastname: Sperl
authors.forename: Jan P
authors.initials: JP
authors.lastname: Kraus
authors.forename: Andrea
authors.initials: A
authors.lastname: Superti-Furga
authors.forename: Karl Otfried
authors.initials: KO
authors.lastname: Schwab
authors.forename: Jörn Oliver
authors.initials: JO
authors.lastname: Sass
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D003071:Cognition; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability; D008297:Male; D056693:Propionic Acidemia / Q000473:pathology* / Q000523:psychology / Q000628:therapy; D011597:Psychomotor Performance; D011788:Quality of Life; D012189:Retrospective Studies; D016896:Treatment Outcome