BACKGROUND: Whereas @entity19721 ( @entity19721 ) is a target disease of @entity21130 ( @entity21130 ) in many countries, it is not in others. Data on the benefit of @entity21130 for @entity19721 are sparse. STUDY DESIGN: Twenty @entity19721 @entity1 diagnosed through @entity21130 were compared to 35 @entity1 diagnosed by @entity209 ( @entity209 ) prompted by clinical findings, family history, or routine laboratory test results. Clinical and biochemical data of @entity1 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 @entity19721 @entity1 who have died within the past 20  years was estimated based on information provided by the participating metabolic centers. RESULTS: @entity1 diagnosed through @entity21130 had neither a milder clinical course regarding the number of metabolic crises nor a better neurological outcome. Among @entity21130 @entity1 , 63% were already symptomatic at the time of diagnosis, and <10% of all @entity1 remained asymptomatic. Among all @entity19721 @entity1 , 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 @entity1 ' age. Physical development was also impaired in the majority of @entity1 . Mortality rates tended to be lower in @entity21130 @entity1 compared with @entity1 diagnosed by @entity209 . CONCLUSION: Early diagnosis of @entity19721 through @entity21130 seems to be associated with a lower mortality rate. However, no significant benefit could be shown for surviving @entity1 with regard to their clinical course, including the number of metabolic crises, physical and neurocognitive development, and long-term complications.

@entity19721 : neonatal versus XXXX .

@entity1 :: ('9606', 'Species') :: ['Patients', 'patients'] @entity19721 :: ('MESH:D056693', 'Disease') :: ['PA', 'propionic acidemia'] @entity21130 :: ('MESH:D006475', 'Disease') :: ['NBS', 'newborn screening'] @entity209 :: ('MESH:D008659', 'Disease') :: ['SMS', 'selective metabolic screening']
@entity209 :: (MESH:D008659,Disease) :: ['selective metabolic screening']
