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Propionic acidemia: neonatal versus selective metabolic screening
Author(s) -
Grünert S. C.,
Müllerleile S.,
Silva L.,
Barth M.,
Walter M.,
Walter K.,
Meissner T.,
Lindner M.,
Ensenauer R.,
Santer R.,
Bodamer O. A.,
Baumgartner M. R.,
BrunnerKrainz M.,
Karall D.,
Haase C.,
Knerr I.,
Marquardt T.,
Hennermann J. B.,
Steinfeld R.,
Beblo S.,
Koch H. G.,
Konstantopoulou V.,
SchollBürgi S.,
TeeffelenHeithoff A.,
Suormala T.,
Sperl W.,
Kraus J. P.,
SupertiFurga A.,
Schwab K. O.,
Sass J. O.
Publication year - 2012
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-011-9419-0
Subject(s) - propionic acidemia , newborn screening , medicine , asymptomatic , pediatrics , metabolic disease , family history , metabolic disorder , intelligence quotient , disease , psychiatry , cognition
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. Study design 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. Conclusion 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.