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European Journal of Pediatrics

, Volume 173, Issue 7, pp 971–974 | Cite as

Propionic acidemia in a previously healthy adolescent with acute onset of dilated cardiomyopathy

  • Alexander LaemmleEmail author
  • Christian Balmer
  • Carsten Doell
  • Jörn Oliver Sass
  • Johannes Häberle
  • Matthias R. Baumgartner
Case Report

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 (DCM). Biochemical work up led to the diagnosis of PA. Remarkably, this patient of consanguineous Hispanic origin was in a good general health condition before the acute onset of DCM. Diagnosis of PA was confirmed by enzymatic and molecular genetic analysis, the latter revealing a novel homozygous mutation in the PCCB gene (c.1229G > A; p.R410Q). Residual PCC enzyme activity of approximately 14 % of normal was detected in patient’s lymphocytes and fibroblasts, thereby providing a possible explanation for the hitherto asymptomatic phenotype. Conclusion: Isolated DCM, although rare, can be the leading and/or sole symptom of late-onset PA. Therefore, patients with DCM should receive a comprehensive diagnostic evaluation including selective screening for inborn errors of metabolism.

Keywords

Propionic acidemia Dilated cardiomyopathy Propionyl-CoA carboxylase Organic aciduria 

Abbreviations

ADHS

Attention deficit and hyperactivity syndrome

DCM

Dilated cardiomyopathy

ECG

Electrocardiography

PA

Propionic acidemia

PCCA and PCCB

Propionyl-CoA carboxylase subunits A and B

Notes

Acknowledgments

This work has been supported by radiz—Rare Disease Initiative Zurich, a clinical research priority program of the University of Zurich. We would like to thank Corinne Britschgi and Seraina Lutz for technical support with molecular genetic analysis of PCCB gene and PCC activity assays, respectively.

Conflict of interest

None.

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Copyright information

© Springer-Verlag Berlin Heidelberg 2014

Authors and Affiliations

  • Alexander Laemmle
    • 1
    • 5
    Email author
  • Christian Balmer
    • 2
    • 5
  • Carsten Doell
    • 3
  • Jörn Oliver Sass
    • 4
    • 5
  • Johannes Häberle
    • 1
    • 5
  • Matthias R. Baumgartner
    • 1
    • 5
  1. 1.Division of Metabolic DiseasesUniversity Children`s HospitalZurichSwitzerland
  2. 2.Division of CardiologyUniversity Children`s HospitalZurichSwitzerland
  3. 3.Division of Neonatology and Paediatric Intensive CareUniversity Children`s HospitalZurichSwitzerland
  4. 4.Division of Clinical Chemistry & BiochemistryUniversity Children`s HospitalZurichSwitzerland
  5. 5.Children’s Research CenterUniversity Children`s HospitalZurichSwitzerland

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