Pyruvate kinase deficiency



Pyruvate kinase deficiency

Hematological system

Coagulation disorders


Vitamin K deficiency

Leukemoid reaction

Leukemoid reaction


Pyruvate kinase deficiency


0 / 5 complete

USMLE® Step 1 questions

0 / 1 complete

High Yield Notes

13 pages


Pyruvate kinase deficiency

of complete


USMLE® Step 1 style questions USMLE

of complete

A 45-year-old man comes to the primary care office because of a three-month history of progressive fatigue, abdominal pain, and darker-than-normal urine, especially in the morning. Temperature is 37°C (98.6°F), pulse is 80/min, respirations are 12/min, and blood pressure is 128/82 mmHg. Physical examination is within normal limits. Laboratory tests are obtained, and the results are shown below.

Sucrose hemolysis test is positive. The patient's condition is most likely attributed to which of the following?

External References

First Aid








Hemolytic anemia p. 429

pyruvate kinase deficiency and p. 417

Pyruvate kinase deficiency p. 417

in anemia taxonomy p. 425

echinocytes in p. 422


Pyruvate kinase deficiency is an inherited disorder caused by a mutation in the gene that codes for the enzyme pyruvate kinase. This enzyme is responsible for catalyzing the breakdown of glucose to form pyruvate. Without functional pyruvate kinase, the body is unable to properly convert glucose into energy, which affects the survival of red blood cells and causes them to break down (hemolysis). Symptoms include anemia, fatigue, splenomegaly, and jaundice. Treatment options include blood transfusions, splenectomy for massive splenomegaly, or allogeneic bone marrow transplantation.


Copyright © 2023 Elsevier, its licensors, and contributors. All rights are reserved, including those for text and data mining, AI training, and similar technologies.

Cookies are used by this site.

USMLE® is a joint program of the Federation of State Medical Boards (FSMB) and the National Board of Medical Examiners (NBME). COMLEX-USA® is a registered trademark of The National Board of Osteopathic Medical Examiners, Inc. NCLEX-RN® is a registered trademark of the National Council of State Boards of Nursing, Inc. Test names and other trademarks are the property of the respective trademark holders. None of the trademark holders are endorsed by nor affiliated with Osmosis or this website.