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Genetics of Pyruvate Carboxylase Deficiency Follow-up

  • Author: Richard E Frye, MD, PhD; Chief Editor: Luis O Rohena, MD  more...
Updated: Feb 18, 2016

Further Outpatient Care

Lactate levels should be closely monitored.

A dietary log should be completed to help evaluate dietary manipulations and to ensure compliance.

An informational statement that describes the child's disorder and the appropriate medical treatment for the disorder in an emergency setting should be carried by the parents at all times.


Further Inpatient Care

Acute decompensation during illness in patients with pyruvate carboxylase deficiency (PCD) requires admission and management of the acidosis with hydration and intravenous bicarbonate.

The patient must be supplied with adequate carbohydrates.



Although diet manipulation and supplementation of substrates and cofactors can reverse some of the biochemical abnormalities, neurologic abnormalities typically progress, and demise within the first 6 months of life is the rule.

Enzyme activity of cultured chorionic villus cells can be determined in time to allow for early prenatal diagnosis.


Patient Education

The patient and the parents should be well educated on the factors that elicit a crisis and the early signs of decompensation.

For excellent patient education resources, please refer to eMedicinehealth.

Contributor Information and Disclosures

Richard E Frye, MD, PhD Associate Professor of Pediatrics, University of Arkansas for Medical Sciences College of Medicine; Director of Autism Research, Child and Behavioral Neurologist, Arkansas Children's Hospital Research Institute

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

Disclosure: Nothing to disclose.


Paul J Benke, MD, PhD Director 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.

Specialty Editor Board

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.

Chief Editor

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

Luis O Rohena, MD 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.

  1. Monnot S, Serre V, Chadefaux-Vekemans B, et al. Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency. Hum Mutat. 2009 May. 30(5):734-40. [Medline].

  2. Ostergaard E, Duno M, Møller LB, Kalkanoglu-Sivri HS, Dursun A, Aliefendioglu D, et al. Novel Mutations in the PC Gene in Patients with Type B Pyruvate Carboxylase Deficiency. JIMD Rep. 2013. 9:1-5. [Medline]. [Full Text].

  3. Marin-Valencia I, Roe CR, Pascual JM. Pyruvate carboxylase deficiency: mechanisms, mimics and anaplerosis. Mol Genet Metab. 2010 Sep. 101(1):9-17. [Medline].

  4. De Meirleir L. Disorders of pyruvate metabolism. Handb Clin Neurol. 2013. 113:1667-73. [Medline].

  5. [Guideline] Murray KF, Carithers RL Jr. AASLD practice guidelines: Evaluation of the patient for liver transplantation. Hepatology. 2005 Jun. 41(6):1407-32. [Medline].

  6. Al-Essa MA, Ozand PT. Manual of Metabolic Disease. 1st ed. Riyadh, Saudi Arabia: King Faisal Specialist Hospital and Research Centre; 1998.

  7. Augereau C, Pham Dinh D, Moncion A. Pyruvate carboxylase deficiencies: complementation studies between "French" and "American" phenotypes in cultured fibroblasts. J Inherit Metab Dis. 1985. 8(2):59-62. [Medline].

  8. Bartlett K, Ghneim HK, Stirk JH. Pyruvate carboxylase deficiency. J Inherit Metab Dis. 1984. 7 Suppl 1:74-8. [Medline].

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

  10. Garcia-Cazorla A, Rabier D, Touati G, Chadefaux-Vekemans B, Marsac C, de Lonlay P. Pyruvate carboxylase deficiency: metabolic characteristics and new neurological aspects. Ann Neurol. 2006 Jan. 59(1):121-7. [Medline].

  11. Higgins JJ, Glasgow AM, Lusk M. MRI, clinical, and biochemical features of partial pyruvate carboxylase deficiency. J Child Neurol. 1994 Oct. 9(4):436-9. [Medline].

  12. Mochel F, DeLonlay P, Touati G, Brunengraber H, Kinman RP, Rabier D. Pyruvate carboxylase deficiency: clinical and biochemical response to anaplerotic diet therapy. Mol Genet Metab. 2005 Apr. 84(4):305-12. [Medline].

  13. Nyhan WL, Khanna A, Barshop BA. Pyruvate carboxylase deficiency--insights from liver transplantation. Mol Genet Metab. 2002 Sep-Oct. 77(1-2):143-9. [Medline].

  14. Perry TL, Haworth JC, Robinson BH. Brain amino acid abnormalities in pyruvate carboxylase deficiency. J Inherit Metab Dis. 1985. 8(2):63-6. [Medline].

  15. Robinson BH. Lactic acidemia and mitochondrial disease. Mol Genet Metab. 2006 Sep-Oct. 89(1-2):3-13. [Medline].

  16. Roe CR, Mochel F. Anaplerotic diet therapy in inherited metabolic disease: therapeutic potential. J Inherit Metab Dis. 2006 Apr-Jun. 29(2-3):332-40. [Medline].

  17. Schiff M, Levrat V, Acquaviva C, Vianey-Saban C, Rolland MO, Guffon N. A case of pyruvate carboxylase deficiency with atypical clinical and neuroradiological presentation. Mol Genet Metab. 2006 Feb. 87(2):175-7. [Medline].

  18. Stacpoole PW, Barnes CL, Hurbanis MD. Treatment of congenital lactic acidosis with dichloroacetate [see comments]. Arch Dis Child. 1997 Dec. 77(6):535-41. [Medline].

  19. Ullrich K, Schmidt H, van Teeffelen-Heithoff A. Glycogen storage disease type I and III and pyruvate carboxylase deficiency: results of long-term treatment with uncooked cornstarch. Acta Paediatr Scand. 1988 Jul. 77(4):531-6. [Medline].

  20. Van Coster RN, Janssens S, Misson JP. Prenatal diagnosis of pyruvate carboxylase deficiency by direct measurement of catalytic activity on chorionic villi samples. Prenat Diagn. 1998 Oct. 18(10):1041-4. [Medline].

This is a diagrammatic representation of the citric acid cycle and the abnormalities found in pyruvate carboxylase deficiency. The dotted line represents absent pathways. Pyruvate cannot produce oxaloacetate and is shunted to alternative pathways that produce lactic acid and alanine. The lack of oxaloacetate prevents gluconeogenesis and urea cycle function.
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