eMedicine Specialties > Endocrinology > Metabolic Disorders

Pyruvate Kinase Deficiency: Treatment & Medication

Author: Richard E Frye, MD, PhD, Assistant Professor, Departments of Pediatrics and Neurology, University of Texas Health Science Center at Houston
Coauthor(s): Thomas G DeLoughery, MD, Professor of Medicine and Pathology, Divisions of Hematology/Oncology and Laboratory Medicine, Associate Director, Department of Transfusion Medicine, Division of Clinical Pathology, Oregon Health Sciences University
Contributor Information and Disclosures

Updated: Dec 18, 2008

Treatment

Medical Care

In patients with mild to moderate disease, care is predominantly supportive in nature. However, splenectomy is useful in persons with severe disease.

  • Red blood cell transfusion may be necessary if the hemoglobin value falls significantly. This tends to occur in early childhood and during periods when physiologic stress is present, such as when an infection exists or during pregnancy.
  • Two studies that addressed pyruvate kinase deficiency (PKD) during pregnancy stated the following:
    • Uncomplicated pregnancy, delivery, and birth were reported, despite a decline in the hemoglobin value to 6.8 g/dL during pregnancy.10
    • Significant puerperal jaundice has been successfully treated with conservative measures.11
  • Bone marrow transplantation was performed on a 5-year-old boy with severe hemolytic anemia due to PKD and heterozygous hemoglobin E, using ABO-identical and HLA-identical marrow from his sister. A report published more than 3 years posttransplant indicated that the patient was still healthy at that time, without symptomatology of PKD.12

Surgical Care

Splenectomy is indicated only for patients with severe anemia.

  • Splenectomy can reduce anemia, but hemolysis will not be abolished.
  • The hemoglobin concentration typically increases by 1-3 g/dL.
  • Transfusion requirements typically decrease.
  • The danger of an aplastic crisis with infection is reduced.
  • Growth delay, if present, may be reversed, and catch-up growth may ensue.
  • Splenectomy does not improve mild anemia.
  • Splenectomy should be performed by an experienced surgeon, especially in pediatric patients.
  • Consider the susceptibility to infection following splenectomy, especially in children younger than 5 years.

Consultations

  • A hematologist should be consulted for management and treatment.
  • A surgeon should be consulted if splenectomy is considered.
  • An anesthesiologist should be consulted for presurgical management if anemia is severe.
  • A gastroenterologist may be necessary to help evaluate complications of the biliary tree.

Activity

High-impact contact sports are contraindicated in patients with significant splenomegaly.

More on Pyruvate Kinase Deficiency

Overview: Pyruvate Kinase Deficiency
Differential Diagnoses & Workup: Pyruvate Kinase Deficiency
Treatment & Medication: Pyruvate Kinase Deficiency
Follow-up: Pyruvate Kinase Deficiency
References
Further Reading
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References

  1. Kedar P, Hamada T, Warang P, et al. Spectrum of novel mutations in the human PKLR gene in pyruvate kinase-deficient Indian patients with heterogeneous clinical phenotypes. Clin Genet. Aug 28 2008;[Medline].

  2. Yavarian M, Karimi M, Shahriary M, et al. Prevalence of pyruvate kinase deficiency among the south Iranian population: quantitative assay and molecular analysis. Blood Cells Mol Dis. May-Jun 2008;40(3):308-11. [Medline].

  3. Valentini G, Chiarelli LR, Fortin R, et al. Structure and function of human erythrocyte pyruvate kinase. Molecular basis of nonspherocytic hemolytic anemia. J Biol Chem. Jun 28 2002;277(26):23807-14. [Medline]. [Full Text].

  4. Beutler E, Gelbart T. Estimating the prevalence of pyruvate kinase deficiency from the gene frequency in the general white population. Blood. Jun 1 2000;95(11):3585-8. [Medline]. [Full Text].

  5. Carey PJ, Chandler J, Hendrick A, et al. Prevalence of pyruvate kinase deficiency in northern European population in the north of England. Northern Region Haematologists Group. Blood. Dec 1 2000;96(12):4005-6. [Medline]. [Full Text].

  6. Ayi K, Min-Oo G, Serghides L, et al. Pyruvate kinase deficiency and malaria. N Engl J Med. Apr 24 2008;358(17):1805-10. [Medline]. [Full Text].

  7. Titapiwatanakun R, Hoyer JD, Crain K, et al. Relative red blood cell enzyme levels as a clue to the diagnosis of pyruvate kinase deficiency. Pediatr Blood Cancer. Dec 2008;51(6):819-21. [Medline].

  8. Andersen FD, d'Amore F, Nielsen FC. Unexpectedly high but still asymptomatic iron overload in a patient with pyruvate kinase deficiency. Hematol J. 2004;5(6):543-5. [Medline].

  9. Marshall SR, Saunders PW, Hamilton PJ, et al. The dangers of iron overload in pyruvate kinase deficiency. Br J Haematol. Mar 2003;120(6):1090-1. [Medline].

  10. Ghidini A, Korker VL. Severe pyruvate kinase deficiency anemia. A case report. J Reprod Med. Aug 1998;43(8):713-5. [Medline].

  11. Esen UI, Olajide F. Pyruvate kinase deficiency: an unusual cause of puerperal jaundice. Int J Clin Pract. Jul-Aug 1998;52(5):349-50. [Medline].

  12. Tanphaichitr VS, Suvatte V, Issaragrisil S, et al. Successful bone marrow transplantation in a child with red blood cell pyruvate kinase deficiency. Bone Marrow Transplant. Sep 2000;26(6):689-90. [Medline].

  13. Kedar PS, Nampoothiri S, Sreedhar S, et al. First-trimester prenatal diagnosis of pyruvate kinase deficiency in an Indian family with the pyruvate kinase-Amish mutation. Genet Mol Res. Jun 30 2007;6(2):470-5. [Medline].

  14. Chou R, DeLoughery TG. Recurrent thromboembolic disease following splenectomy for pyruvate kinase deficiency. Am J Hematol. Jul 2001;67(3):197-9. [Medline].

  15. Pincus M, Stark RA, O''Neill JH. Ischaemic stroke complicating pyruvate kinase deficiency. Intern Med J. Sep-Oct 2003;33(9-10):473-4. [Medline].

  16. Ferreira P, Morais L, Costa R, et al. Hydrops fetalis associated with erythrocyte pyruvate kinase deficiency. Eur J Pediatr. Jul 2000;159(7):481-2. [Medline].

  17. Cazzola M. Pyruvate kinase deficiency. Haematologica. Jan 2005;90(1):1-2. [Medline].

  18. Glader BE, Lukens JN. Hereditary hemolytic anemias associated with abnormalities of erythrocyte glycolysis and nucleotide metabolism. In: Lee GR, Foerster J, Lukens J, et al, eds. Wintrobe's Clinical Hematology. 10th ed. Baltimore, Md: Williams & Wilkins; 1999:1160-75.

  19. Hirono A, Kanno H, Miwa S. Pyruvate kinase deficiency and other enzymopathies of the erythrocyte. In: Scriver CR, Beaudet AL, Sly WS, et al, eds. The Molecular and Metabolic Bases of Inherited Disease. 8th ed. 2001: McGraw-Hill; 2001:4637-64.

  20. McMullin MF. The molecular basis of disorders of red cell enzymes. J Clin Pathol. Apr 1999;52(4):241-4. [Medline]. [Full Text].

  21. Mentzer WC. Pyruvate kinase deficiency and disorders of glycolysis. In: Nathan DG, Orkin SH, eds. Nathan and Orkin's Hematology of Infancy and Childhood. 5th ed. Philadelphia, Pa: WB Saunders; 1998:665-703.

  22. Sabiston DC Jr. Splenectomy for anemia. In: Sabiston DC Jr, Lyerly HK, eds. Textbook of Surgery: the Biological Basis of Modern Surgical Practice. 15th ed. Philadelphia, Pa: WB Saunders; 1997:1203-6.

  23. Segel GB. Enzymatic defects. Section 3: hemolytic anemias. Part XX: disease of blood. In: Behrman RE, Kliegman RM, Jenson HB, eds. Nelson Textbook of Pediatrics. 16th ed. Philadelphia, Pa: WB Saunders; 2000:1488-93.

  24. Suvatte V, Tanphaichitr VS, Visuthisakchai S, et al. Bone marrow, peripheral blood and cord blood stem cell transplantation in children: ten years'' experience at Siriraj Hospital. Int J Hematol. Dec 1998;68(4):411-9. [Medline].

  25. Yawata Y. Nonimmune hemolytic anemia. In: Rakel RE, ed. Conn's Current Therapy 2000. 52nd ed. Philadelphia, Pa: WB Saunders; 2000:363-6.

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Further Reading

Related eMedicine topics:
 Anemia
Hemolytic Anemia
Hydrops Fetalis [Pediatrics: Cardiac Disease and Critical Care Medicine]
Hydrops Fetalis [Radiology]
Hemolytic Disease of Newborn
Pyruvate Kinase Deficiency [Pediatrics: General Medicine]

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Keywords

pyruvate kinase deficiency, anemia, glycolysis, pyruvate, hemolytic anemia, anemia symptoms, blood disease, symptoms of anemia, anemia treatment, anaemia, blood diseases, blood disorder, hydrops fetalis, blood disorders, pyruvate kinase, anemia and pregnancy, anaerobic glycolysis, hematologic disorder, enzyme defect, erythrocyte enzymopathy, PK Beppu, pyruvate kinase Beppu

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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)

Thomas G DeLoughery, MD, Professor of Medicine and Pathology, Divisions of Hematology/Oncology and Laboratory Medicine, Associate Director, Department of Transfusion Medicine, Division of Clinical Pathology, Oregon Health Sciences University
Thomas G DeLoughery, MD is a member of the following medical societies: American Association for the Advancement of Science, American Association of Blood Banks, American College of Physicians, American Society of Hematology, International Society on Thrombosis and Haemostasis, and Wilderness Medical Society
Disclosure: Nothing to disclose.

Medical Editor

Elena Citkowitz, MD, PhD, FACP, Clinical Professor of Medicine, Yale University School of Medicine; Director, Cholesterol Management Center, Director, Cardiac Rehabilitation, Department of Medicine, Hospital of St Raphael
Elena Citkowitz, MD, PhD, FACP is a member of the following medical societies: American College of Physicians, American Heart Association, National Lipid Association, and Sigma Xi
Disclosure: Nothing to disclose.

Pharmacy Editor

Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine
Disclosure: eMedicine Salary Employment

Managing Editor

Kent Wehmeier, MD, Professor, Department of Internal Medicine, Division of Endocrinology, Diabetes, and Metabolism, St Louis University School of Medicine
Kent Wehmeier, MD is a member of the following medical societies: American Society of Hypertension, Endocrine Society, and International Society for Clinical Densitometry
Disclosure: Nothing to disclose.

CME Editor

Mark Cooper, MBBS, PhD, FRACP, Head, Diabetes & Metabolism Division, Baker Heart Research Institute, Professor of Medicine, Monash University
Disclosure: Nothing to disclose.

Chief Editor

George T Griffing, MD, Professor of Medicine, St Louis University School of Medicine
George T Griffing, MD is a member of the following medical societies: American Association for the Advancement of Science, American College of Medical Practice Executives, American College of Physician Executives, American College of Physicians, American Diabetes Association, American Federation for Medical Research, American Heart Association, Central Society for Clinical Research, Endocrine Society, International Society for Clinical Densitometry, and Southern Society for Clinical Investigation
Disclosure: Nothing to disclose.

 
 
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