The Indian Journal of Pediatrics

, Volume 84, Issue 12, pp 959–960 | Cite as

Pyruvate Carboxylase Deficiency Mimicking Diabetic Ketoacidosis

  • Pragya Mangla
  • Poonam Singh Gambhir
  • Siddhnath Sudhanshu
  • Priyanka Srivastava
  • Archana Rai
  • Vijayalakshmi Bhatia
  • Shubha R. Phadke
Scientific Letter
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Notes

Contributions

All the authors, except PSG and AR, were involved in the management and the work-up of the patient. PSG and AR carried out the genetic studies. PM and PSG were equally involved in drafting of the manuscript and both to be regarded as first authors. SRP will act as guarantor of the paper.

Compliance with Ethical Standards

Conflict of Interest

None.

Source of Funding

Indian Council of Medical Research (grant number 63/8/2010-BMS) funded the molecular investigations.

References

  1. 1.
    Sharda S, Angurana SK, Walia M, Attri S. Defect of cobalamin intracellular metabolism presenting as diabetic ketoacidosis: a rare manifestation. JIMD Rep. 2013;11:43–7.CrossRefPubMedPubMedCentralGoogle Scholar
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    Sass JO. Inborn errors of ketogenesis and ketone body utilization. J Inherit Metab Dis. 2012;35:23–8.CrossRefPubMedGoogle Scholar
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    Paksu MS, Kalkan G, Asilioglu N, Paksu S, Dinler G. Gluconeogenesis defect presenting with resistant hyperglycemia and acidosis mimicking diabetic ketoacidosis. Pediatr Emerg Care. 2011;27:1180–1.CrossRefPubMedGoogle Scholar
  4. 4.
    Marin-Valencia I, Roe CR, Pascual JM. Pyruvate carboxylase deficiency: mechanisms, mimics and anaplerosis. Mol Genet Metab. 2010;101:9–17.CrossRefPubMedGoogle Scholar
  5. 5.
    Buist NR. Is pyruvate carboxylase involved in the renal tubular reabsorption of bicarbonate? J Inherit Metab Dis. 1980;3:113–6.Google Scholar

Copyright information

© Dr. K C Chaudhuri Foundation 2017

Authors and Affiliations

  • Pragya Mangla
    • 1
  • Poonam Singh Gambhir
    • 2
  • Siddhnath Sudhanshu
    • 1
  • Priyanka Srivastava
    • 2
  • Archana Rai
    • 2
  • Vijayalakshmi Bhatia
    • 1
  • Shubha R. Phadke
    • 2
  1. 1.Department of EndocrinologySanjay Gandhi Postgraduate Institute of Medical SciencesLucknowIndia
  2. 2.Department of Medical GeneticsSanjay Gandhi Postgraduate Institute of Medical SciencesLucknowIndia

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