eMedicine Specialties > Pediatrics: Genetics and Metabolic Disease > Metabolic Diseases

Pyruvate Carboxylase Deficiency: Follow-up

Author: Richard E Frye, MD, PhD, Assistant Professor, Departments of Pediatrics and Neurology, University of Texas Health Science Center at Houston
Coauthor(s): Paul J Benke, MD, PhD, Director of Clinical Genetics, Joe DiMaggio Children's Hospital
Contributor Information and Disclosures

Updated: Nov 6, 2009

Follow-up

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.

Further Outpatient Care

  • Lactate levels should be monitored closely.
  • 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.

Prognosis

  • 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.

Miscellaneous

Medicolegal Pitfalls

  • Several other metabolic encephalopathies can manifest with the same signs and symptoms as pyruvate carboxylase deficiency (PCD). Exclude other disorders of the citric acid cycle, such as pyruvate dehydrogenase complex (PDC) deficiency and other mitochondropathies. Biotinidase deficiency is also important to exclude because it is potentially treatable.
  • MRI brain abnormalities can be essential to the diagnosis of an energy deficiency syndrome such as pyruvate carboxylase deficiency but may not develop early in the disease course. Thus, repeat MRI scans at regular intervals in children who display signs and symptoms consistent with an energy deficiency syndrome.
  • Urine organic acids may be nonspecific or may only demonstrate abnormalities during times of stress. Thus, this test may need to be repeated several times for a meaningful result.
 


More on Pyruvate Carboxylase Deficiency

Overview: Pyruvate Carboxylase Deficiency
Differential Diagnoses & Workup: Pyruvate Carboxylase Deficiency
Treatment & Medication: Pyruvate Carboxylase Deficiency
Follow-up: Pyruvate Carboxylase Deficiency
Multimedia: Pyruvate Carboxylase Deficiency
References
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References

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

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

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Further Reading

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Keywords

pyruvate carboxylase deficiency, PCD, PC, congenital infantile lactic acidosis, intermittent ataxia with lactic acidosis type II, Leigh necrotizing encephalopathy, treatment, diagnosis

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Contributor Information and Disclosures

Author

Richard E Frye, MD, PhD, Assistant Professor, Departments of Pediatrics and Neurology, University of Texas Health Science Center at Houston
Richard E Frye, MD, PhD is a member of the following medical societies: American Academy of Neurology, American Academy of Pediatrics, Child Neurology Society, and International Neuropsychological Society
Disclosure: Nothing to disclose.

Coauthor(s)

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 Academy of Pediatrics and American Society of Human Genetics
Disclosure: Nothing to disclose.

Medical Editor

Ian Krantz, MD, Department of Pediatrics, Assistant Professor, University of Pennsylvania and Children's Hospital of Philadelphia
Ian Krantz, MD is a member of the following medical societies: American Society of Human Genetics
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from financial planner; Avanir Pharma Stock Investment from financial planner ; WebMD Salary and stock Employment and investment from financial planner

Managing Editor

Robert Anthony Saul, MD, Clinical Professor, Department of Pediatrics, University of South Carolina; Senior Clinical Geneticist, Greenwood Genetic Center
Robert Anthony Saul, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics, and American College of Physician Executives
Disclosure: Nothing to disclose.

CME Editor

Paul D Petry, DO, FACOP, FAAP, Consulting Staff, Freeman Pediatric Care, Freeman Health System
Paul D Petry, DO, FACOP, FAAP is a member of the following medical societies: American Academy of Osteopathy, American Academy of Pediatrics, American College of Osteopathic Pediatricians, and American Osteopathic Association
Disclosure: Nothing to disclose.

Chief Editor

Bruce Buehler, MD, Professor, Department of Pediatrics, Pathology and Microbiology, Executive Director, Hattie B Munroe Center for Human Genetics, University of Nebraska Medical Center
Bruce Buehler, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Pediatrics, American Association on Mental Retardation, American College of Medical Genetics, American College of Physician Executives, American Medical Association, and Nebraska Medical Association
Disclosure: Nothing to disclose.

 
 
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