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Usefulness of biochemical parameters in decision-making on the start of emergency treatment in patients with propionic acidemia

  • Original Article
  • Published:
Journal of Inherited Metabolic Disease

Abstract

Background

Recurrent acute and life-threatening metabolic decompensations are thought to be the major cause of mortality and morbidity in patients with propionic acidemia (PA). Since metabolic decompensations in these patients usually develop gradually, there is considerable uncertainty about the beginning and when emergency treatment should be initiated. The major aim of this study was to evaluate the usefulness of biochemical parameters for improving decision-making on the start of emergency treatment.

Methods

We analysed data of 16 PA patients continuously followed in our centre. Metabolic decompensation was defined clinically by the occurrence of at least one of three alarming symptoms: vomiting, food refusal or impaired consciousness. Thirty-eight biochemical parameters were analysed.

Results

A total of 259 metabolic decompensations were documented and compared with 625 routine visits. Among the symptoms used to clinically define metabolic decompensations, vomiting was most frequent (87 %). In total, 19 biochemical parameters differentiated between metabolic decompensations and routine visits. Among them ammonia, acid–base balance and anion gap were most reliable to identify a metabolic decompensation, and to estimate its severity. A comparative analysis of patients with PA and methylmalonic acidemia during metabolic decompensation showed similar results.

Conclusions

Ammonia, acid–base balance and anion gap are important biochemical parameters to identify an (impending) metabolic decompensation and to assess its severity in PA patients. The identified biochemical parameters should be integrated in an algorithm for clinical decision-making on emergency treatment and should be tested in a prospective trial.

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Abbreviations

AC/FC:

Ratio of acylcarnitines to free carnitine

MMA:

Methylmalonic acidemia

PA:

Propionic acidemia

PCC:

Propionyl CoA carboxylase, EC 6.4.1.3

TCA:

Tricarboxylic acid

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Acknowledgments

This study is dedicated to the patients and their families whom the authors thank for their trust and kind cooperation. We are grateful to colleagues who participated throughout the years caring for and providing information on their patients, notably M. Lindner, D. Haas, F. Hörster, C. Manegold, C. Pontes and V. Konstantopoulou. We thank the “Arbeitsgemeinschaft für Pädiatrische Stoffwechselstörungen e.V.” for financial support to this study (to T.Z.).

Details of funding

The study was supported by the “Arbeitsgemeinschaft für Pädiatrische Stoffwechselstörungen e.V.” (APS; www.aps-med.de). The authors confirm independence from the sponsors; the content of the article has not been influenced by the sponsors.

Conflict of interest

None.

Author information

Authors and Affiliations

  1. Department of General Pediatrics, Division of Inherited Metabolic Diseases, University Children’s Hospital, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany

    Tamaris Zwickler, Alina Riderer, Gisela Haege, Georg F. Hoffmann, Stefan Kölker & Peter Burgard

Authors
  1. Tamaris Zwickler
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  2. Alina Riderer
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  3. Gisela Haege
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  4. Georg F. Hoffmann
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  5. Stefan Kölker
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  6. Peter Burgard
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Corresponding author

Correspondence to Tamaris Zwickler.

Additional information

Communicated by: Carlo Dionisi-Vici

References to electronic databases: Propionic acidemia OMIM 606054. Propionyl-CoA carboxylase, α-subunit: PCCA, OMIM 232000, Propionyl-CoA carboxylase, β-subunit: PCCB, OMIM 232050. Propionyl-CoA carboxylase, EC 6.4.1.3, Methylmalonic aciduria due to methylmalonyl-CoA mutase activity deficiency (mut0, mut−), OMIM 251000. Methylmalonyl-CoA mutase, EC 5.4.99.2

Tamaris Zwickler and Alina Riderer contributed equally to this study.

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Zwickler, T., Riderer, A., Haege, G. et al. Usefulness of biochemical parameters in decision-making on the start of emergency treatment in patients with propionic acidemia. J Inherit Metab Dis 37, 31–37 (2014). https://doi.org/10.1007/s10545-013-9621-3

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  • DOI: https://doi.org/10.1007/s10545-013-9621-3

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