Pyruvate Dehydrogenase Deficiency (PDCD) Guidelines

1. Ostergaard E, Moller LB, Kalkanoglu-Sivri HS, et al. Four novel PDHA1 mutations in pyruvate dehydrogenase deficiency. J Inherit Metab Dis. 2009 Jun 11. [QxMD MEDLINE Link].

2. Steller J, Gargus JJ, Gibbs LH, Hasso AN, Kimonis VE. Mild phenotype in a male with pyruvate dehydrogenase complex deficiency associated with novel hemizygous in-frame duplication of the E1a subunit gene (PDHA1). Neuropediatrics. 2014 Feb. 45(1):56-60. [QxMD MEDLINE Link].

3. Patel KP, O'Brien TW, Subramony SH, Shuster J, Stacpoole PW. The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients. Mol Genet Metab. 2012 Jan. 105(1):34-43. [QxMD MEDLINE Link]. [Full Text].

4. Weber TA, Antognetti MR, Stacpoole PW. Caveats when considering ketogenic diets for the treatment of pyruvate dehydrogenase complex deficiency. J Pediatr. 2001 Mar. 138(3):390-5. [QxMD MEDLINE Link].

5. Patel KP, O'Brien TW, Subramony SH, Shuster J, Stacpoole PW. The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients. Mol Genet Metab. 2012 Jan. 105(1):34-43. [QxMD MEDLINE Link].

6. Giribaldi G, Doria-Lamba L, Biancheri R, Severino M, Rossi A, Santorelli FM, et al. Intermittent-relapsing pyruvate dehydrogenase complex deficiency: a case with clinical, biochemical, and neuroradiological reversibility. Dev Med Child Neurol. 2011 Dec 5. [QxMD MEDLINE Link].

7. Han Z, Zhong L, Srivastava A, Stacpoole PW. Pyruvate dehydrogenase complex deficiency due ubiquitination and proteasome-mediated degradation of the E1beta subunit. J Biol Chem. 2007 Oct 8. [QxMD MEDLINE Link].

8. Debray FG, Mitchell GA, Allard P, Robinson BH, Hanley JA, Lambert M. Diagnostic accuracy of blood lactate-to-pyruvate molar ratio in the differential diagnosis of congenital lactic acidosis. Clin Chem. 2007 May. 53(5):916-21. [QxMD MEDLINE Link].

9. van Dongen S, Brown RM, Brown GK, Thorburn DR, Boneh A. Thiamine-responsive and non-responsive patients with PDHC-E1 deficiency: a retrospective assessment. JIMD Rep. 2014 Apr 10. [QxMD MEDLINE Link].

10. Stacpoole PW, Kerr DS, Barnes C, Bunch ST, Carney PR, Fennell EM. Controlled clinical trial of dichloroacetate for treatment of congenital lactic acidosis in children. Pediatrics. 2006 May. 117(5):1519-31. [QxMD MEDLINE Link].

11. Parikh S, Goldstein A, Koenig MK, Scaglia F, Enns GM, Saneto R, et al. Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society. Genet Med. 2015 Sep. 17 (9):689-701. [QxMD MEDLINE Link].

12. Parikh S, Goldstein A, Karaa A, Koenig MK, Anselm I et al. Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society. Genet Med. 2017 Dec. 19 (12):[QxMD MEDLINE Link].

13. Al-Essa MA, Ozand PT. Manual of Metabolic Diseases. Saudi Arabia: King Faisal Specialist Hospital and Research Centre, Riyadh; 1998.

14. Brown GK, Otero LJ, LeGris M, Brown RM. Pyruvate dehydrogenase deficiency. J Med Genet. 1994 Nov. 31(11):875-9. [QxMD MEDLINE Link].

15. Byrd DJ, Krohn HP, Winkler L, et al. Neonatal pyruvate dehydrogenase deficiency with lipoate responsive lactic acidaemia and hyperammonaemia. Eur J Pediatr. 1989 Apr. 148(6):543-7. [QxMD MEDLINE Link].

16. De Meirleir L. Defects of pyruvate metabolism and the Krebs cycle. J Child Neurol. 2002 Dec. 17 Suppl 3:3S26-33; discussion 3S33-4. [QxMD MEDLINE Link].

17. Debray FG, Lambert M, Vanasse M, Decarie JC, Cameron J, Levandovskiy V. Intermittent peripheral weakness as the presenting feature of pyruvate dehydrogenase deficiency. Eur J Pediatr. 2006 Jul. 165(7):462-6. [QxMD MEDLINE Link].

18. Fouque F, Brivet M, Boutron A, et al. Differential effect of DCA treatment on the pyruvate dehydrogenase complex in patients with severe PDHC deficiency. Pediatr Res. 2003 May. 53(5):793-9. [QxMD MEDLINE Link].

19. Head RA, Brown RM, Zolkipli Z, et al. Clinical and genetic spectrum of pyruvate dehydrogenase deficiency: dihydrolipoamide acetyltransferase (E2) deficiency. Ann Neurol. 2005 Aug. 58(2):234-41. [QxMD MEDLINE Link].

20. Head RA, de Goede CG, Newton RW, et al. Pyruvate dehydrogenase deficiency presenting as dystonia in childhood. Dev Med Child Neurol. 2004 Oct. 46(10):710-2. [QxMD MEDLINE Link].

21. Morris AA, Leonard JV. The treatment of congenital lactic acidoses. J Inherit Metab Dis. 1996. 19(4):573-80. [QxMD MEDLINE Link].

22. Morten KJ, Beattie P, Brown GK, Matthews PM. Dichloroacetate stabilizes the mutant E1alpha subunit in pyruvate dehydrogenase deficiency. Neurology. 1999 Aug 11. 53(3):612-6. [QxMD MEDLINE Link].

23. Naito E, Ito M, Yokota I, et al. Diagnosis and molecular analysis of three male patients with thiamine-responsive pyruvate dehydrogenase complex deficiency. J Neurol Sci. 2002 Sep 15. 201(1-2):33-7. [QxMD MEDLINE Link].

24. Naito E, Ito M, Yokota I, et al. Thiamine-responsive pyruvate dehydrogenase deficiency in two patients caused by a point mutation (F205L and L216F) within the thiamine pyrophosphate binding region. Biochim Biophys Acta. 2002 Oct 9. 1588(1):79-84. [QxMD MEDLINE Link].

25. Pastoris O, Savasta S, Foppa P, et al. Pyruvate dehydrogenase deficiency in a child responsive to thiamine treatment. Acta Paediatr. 1996 May. 85(5):625-8. [QxMD MEDLINE Link].

26. Shevell MI, Matthews PM, Scriver CR, et al. Cerebral dysgenesis and lactic acidemia: an MRI/MRS phenotype associated with pyruvate dehydrogenase deficiency. Pediatr Neurol. 1994 Oct. 11(3):224-9. [QxMD MEDLINE Link].

27. Stacpoole PW, Barnes CL, Hurbanis MD, et al. Treatment of congenital lactic acidosis with dichloroacetate. Arch Dis Child. 1997 Dec. 77(6):535-41. [QxMD MEDLINE Link].

28. Stacpoole PW, Bunch ST, Neiberger RE, et al. The importance of cerebrospinal fluid lactate in the evaluation of congenital lactic acidosis. J Pediatr. 1999 Jan. 134(1):99-102. [QxMD MEDLINE Link].

29. Zand DJ, Simon EM, Pulitzer SB, et al. In vivo pyruvate detected by MR spectroscopy in neonatal pyruvate dehydrogenase deficiency. AJNR Am J Neuroradiol. 2003 Aug. 24(7):1471-4. [QxMD MEDLINE Link].

Richard E Frye, MD, PhD Professor of Child Health, University of Arizona College of Medicine at Phoenix; Chief of Neurodevelopmental Disorders, Director of Autism and Down Syndrome and Fragile X Programs, Division of Neurodevelopmental Disorders, Department of Neurology, Barrow Neurological Institute at Phoenix Children's Hospital

Richard E Frye, MD, PhD is a member of the following medical societies: American Academy of Neurology, American Academy of Pediatrics, Child Neurology Society

Disclosure: Nothing to disclose.

Paul J Benke, MD, PhD Director, Division of Clinical Genetics, Joe DiMaggio Children's Hospital

Paul J Benke, MD, PhD is a member of the following medical societies: American Society of Human Genetics

Disclosure: Nothing to disclose.

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Luis O Rohena, MD, PhD, FAAP, FACMG Deputy Chief, Department of Pediatrics, Chief, Medical Genetics, San Antonio Military Medical Center; Associate Professor of Pediatrics, Uniformed Services University of the Health Sciences, F Edward Hebert School of Medicine; Associate Professor of Pediatrics, University of Texas Health Science Center at San Antonio

Luis O Rohena, MD, PhD, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics, American Chemical Society, American College of Medical Genetics and Genomics, American Society of Human Genetics

Disclosure: Nothing to disclose.

• Print this section
• Print the entire contents of
• Print the entire contents of article