title: Propionic acidemia: neonatal versus selective metabolic screening.
abstract: BACKGROUND
  Whereas propionic acidemia (PA) is a target disease of newborn screening (NBS) in many countries, it is not in others. Data on the benefit of NBS for PA are sparse.
  
  
  METHODS
  Twenty PA patients diagnosed through NBS were compared to 35 patients diagnosed by selective metabolic screening (SMS) prompted by clinical findings, family history, or routine laboratory test results. Clinical and biochemical data of patients from 16 metabolic centers in Germany, Austria, and Switzerland were evaluated retrospectively. Additionally, assessment of the intelligent quotient (IQ) was performed. In a second step, the number of PA patients who have died within the past 20 years was estimated based on information provided by the participating metabolic centers.
  
  
  RESULTS
  Patients diagnosed through NBS had neither a milder clinical course regarding the number of metabolic crises nor a better neurological outcome. Among NBS patients, 63% were already symptomatic at the time of diagnosis, and <10% of all patients remained asymptomatic. Among all PA patients, 76% were found to be at least mildly mentally retarded, with an IQ <69. IQ was negatively correlated with the number of metabolic decompensations, but not simply with the patients' age. Physical development was also impaired in the majority of patients. Mortality rates tended to be lower in NBS patients compared with patients diagnosed by SMS.
  
  
  CONCLUSIONS
  Early diagnosis of PA through NBS seems to be associated with a lower mortality rate. However, no significant benefit could be shown for surviving patients with regard to their clinical course, including the number of metabolic crises, physical and neurocognitive development, and long-term complications.
authors: Zentrum für Kinder- und Jugendmedizin, Universitätsklinikum Freiburg, Freiburg, Germany.
authors: S C
authors: SC
authors: Grünert
authors: S
authors: S
authors: Müllerleile
authors: L
authors: L
authors: de Silva
authors: M
authors: M
authors: Barth
authors: M
authors: M
authors: Walter
authors: K
authors: K
authors: Walter
authors: T
authors: T
authors: Meissner
authors: M
authors: M
authors: Lindner
authors: R
authors: R
authors: Ensenauer
authors: R
authors: R
authors: Santer
authors: O A
authors: OA
authors: Bodamer
authors: M R
authors: MR
authors: Baumgartner
authors: M
authors: M
authors: Brunner-Krainz
authors: D
authors: D
authors: Karall
authors: C
authors: C
authors: Haase
authors: I
authors: I
authors: Knerr
authors: T
authors: T
authors: Marquardt
authors: J B
authors: JB
authors: Hennermann
authors: R
authors: R
authors: Steinfeld
authors: S
authors: S
authors: Beblo
authors: H G
authors: HG
authors: Koch
authors: V
authors: V
authors: Konstantopoulou
authors: S
authors: S
authors: Scholl-Bürgi
authors: A
authors: A
authors: van Teeffelen-Heithoff
authors: T
authors: T
authors: Suormala
authors: W
authors: W
authors: Sperl
authors: J P
authors: JP
authors: Kraus
authors: A
authors: A
authors: Superti-Furga
authors: K O
authors: KO
authors: Schwab
authors: J O
authors: JO
authors: Sass
mesh_terms: D000293:Adolescent; D001317:Austria; D002648:Child; D002675:Child, Preschool; D005260:Female; D005858:Germany; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007361:Intelligence Tests; D008297:Male; D015997:Neonatal Screening / Q000379:methods*; D010045:Outpatients; D056693:Propionic Acidemia / Q000175:diagnosis*; D012189:Retrospective Studies; D011795:Surveys and Questionnaires; D013557:Switzerland