Publication: Propionic acidemia in a previously healthy adolescent with acute onset of dilated cardiomyopathy
Propionic acidemia in a previously healthy adolescent with acute onset of dilated cardiomyopathy
Date
Date
Date
Citations
Laemmle, A., Balmer, C., Doell, C., Sass, J. O., Häberle, J., & Baumgartner, M. R. (2014). Propionic acidemia in a previously healthy adolescent with acute onset of dilated cardiomyopathy. European Journal of Pediatrics, 173, 971–974. https://doi.org/10.1007/s00431-014-2359-6
Abstract
Abstract
Abstract
Propionic acidemia (PA) is a rare autosomal recessive organic aciduria resulting from defects in propionyl-CoA-carboxylase (PCC), a key enzyme of intermediate energy metabolism. PA mostly manifests during the neonatal period, when affected newborns develop severe metabolic acidosis and hyperammonemia. We present a previously healthy teenager, who suffered from acute fatigue and breathlessness. The patient was tachycardic, displayed a precordial heave and a systolic murmur. Cardiac investigations revealed severe dilated cardiomyopathy
Metrics
Downloads
Views
Additional indexing
Creators (Authors)
- Laemmle, Alexander
- Balmer, Christian
- Doell, Carsten
- Sass, Jörn Oliver
- Häberle, Johannes
Volume
Volume
Volume
Number
Number
Number
Page range/Item number
Page range/Item number
Page range/Item number
Page end
Page end
Page end
Item Type
Item Type
Item Type
In collections
Dewey Decimal Classifikation
Dewey Decimal Classifikation
Dewey Decimal Classifikation
Language
Language
Language
Publication date
Publication date
Publication date
Date available
Date available
Date available
ISSN or e-ISSN
ISSN or e-ISSN
ISSN or e-ISSN
OA Status
OA Status
OA Status
Publisher DOI
Metrics
Downloads
Views
Citations
Laemmle, A., Balmer, C., Doell, C., Sass, J. O., Häberle, J., & Baumgartner, M. R. (2014). Propionic acidemia in a previously healthy adolescent with acute onset of dilated cardiomyopathy. European Journal of Pediatrics, 173, 971–974. https://doi.org/10.1007/s00431-014-2359-6
