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Citric acid as the last therapeutic approach in an acute life-threatening metabolic decompensation of propionic acidaemia

  • Manuela Siekmeyer , Stefanie Petzold-Quinque EMAIL logo , Friederike Terpe , Skadi Beblo , Rolf Gebhardt , Franziska Schlensog-Schuster , Wieland Kiess and Werner Siekmeyer
Published/Copyright: February 15, 2013
Journal of Pediatric Endocrinology and Metabolism
From the journal Journal of Pediatric Endocrinology and Metabolism Volume 26 Issue 5-6

Abstract

The tricarboxylic acid (TCA) cycle represents the key enzymatic steps in cellular energy metabolism. Once the TCA cycle is impaired in case of inherited metabolic disorders, life-threatening episodes of metabolic decompensation and severe organ failure can arise. We present the case of a 6 ½-year-old girl with propionic acidaemia during an episode of acute life-threatening metabolic decompensation and severe lactic acidosis. Citric acid given as an oral formulation showed the potential to sustain the TCA cycle flux. This therapeutic approach may become a treatment option in a situation of acute metabolic crisis, possibly preventing severe disturbance of energy metabolism.

Keywords: lactic acidosis; propionic acidaemia; tricarboxylic acid cycle (TCA)
Corresponding author: Stefanie Petzold-Quinque, MD, Department of Women and Child Health, University Hospital, University of Leipzig, Liebigstr. 20a, 04103 Leipzig, Germany, Phone: +49-341-97 26 424, Fax: +49-341-97 26 449

We thank the nurses and physicians who helped in caring for the girl, and her family for their cooperation and help.

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Received: 2012-5-8
Accepted: 2013-1-16
Published Online: 2013-02-15
Published in Print: 2013-05-01

©2013 by Walter de Gruyter Berlin Boston

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https://doi.org/10.1515/jpem-2012-0148
Keywords for this article
lactic acidosis; propionic acidaemia; tricarboxylic acid cycle (TCA)

Articles in the same Issue

  1. Masthead
  2. Masthead
  3. Editorial
  4. Success has many fathers, failure is orphan
  5. Review Article
  6. Normosmic idiopathic hypogonadotropic hypogonadism: update on the genetic background and future challenges
  7. Original Articles
  8. Temporary brittle bone disease: association with intracranial bleeding
  9. Asymmetric dimethylarginine (ADMA) and L-arginine levels in children with glycogen storage disease type I
  10. Application of liquid chromatography-tandem mass spectrometry in the diagnosis and follow-up of maple syrup urine disease in a Chinese population
  11. The role of uncoupling protein 2 and 3 genes polymorphism and energy expenditure in obese Indonesian children
  12. Thyroid dysfunctions of prematurity and their impacts on neurodevelopmental outcome1)
  13. Frequency of the E23K polymorphism of the KCNJ11 gene in children born small for gestational age and its influence on auxological and metabolic parameters in the prepubertal period
  14. Reference intervals for serum thyroid hormones in preterm hospitalized infants1)
  15. The clinical and biochemical presentation of vitamin D deficiency and insufficiency in children and adolescents
  16. A risk score for identifying overweight adolescents with dysglycemia in primary care settings1)
  17. Thyroid function and morphology in overweight and obese children and adolescents in a Chinese population
  18. Propionic acidaemia: demographic characteristics and complicationsa
  19. Negative correlation between serum IL-6 level and cardiorespiratory fitness in 10- to 11-year-old boys with increased BMI
  20. Penile length and genital anomalies in Egyptian male newborns: epidemiology and influence of endocrine disruptors
  21. Efficacy of vitamin D loading doses on serum 25-hydroxy vitamin D levels in school going adolescents: an open label non-randomized prospective trial
  22. Characteristics of infants admitted with hypoglycemia to a neonatal unit
  23. Increasing thyroid-stimulating hormone is associated with impaired glucose metabolism in euthyroid obese children and adolescents
  24. The role of FTO genotype on eating behavior in obese Sardinian children and adolescents
  25. Prevalence of multiple forms of autoimmunity in Egyptian patients with Turner syndrome: relation to karyotype
  26. A novel DAX-1 mutation presented with precocious puberty and hypogonadotropic hypogonadism in different members of a large pedigree
  27. Patient Reports
  28. Pseudohypoparathyroidism type Ia: a novel GNAS mutation in a Brazilian boy presenting with an early primary hypothyroidism
  29. Diabetic ketoacidosis with cerebral hemorrhage and alpha coma in an adolescent female
  30. A novel mutation in thyrotropin (thyroid-stimulating hormone) gene in congenital hypothyroidism
  31. Citric acid as the last therapeutic approach in an acute life-threatening metabolic decompensation of propionic acidaemia
  32. A case of autosomal dominant osteopetrosis type II with a novel TCIRG1 gene mutation
  33. The interpretation of color – an endocrine cause of skin discoloration mimicking cyanosis
  34. Novel heterozygous thyrotropin receptor mutation presenting with neonatal hyperthyrotropinaemia, mild thyroid hypoplasia and absent uptake on radioisotope scan
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  36. 10.1515/jpem-2012-0133
  37. Vaginal bleeding in a 4-month-old preterm girl: extreme minipuberty mimicking central precocious puberty
  38. A rare case of isolated Cushing syndrome in a 3-month-old boy
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