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What Is Pyruvate Kinase Deficiency?

Blood transfusions are often used to treat anemia that results from pyruvate kinase deficiency.
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  • Written By: Emma G.
  • Edited By: Melissa Wiley
  • Last Modified Date: 14 September 2014
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Pyruvate kinase deficiency is a lack of the enzyme pyruvate kinase. This enzyme is used by red blood cells to keep them strong. Without the pyruvate kinase enzyme, red blood cells break down more easily than they should. If too many red blood cells are destroyed, a person may suffer from anemia, a lack of oxygen in the blood that leads to weakness, fatigue, and other symptoms.

As red blood cells are pumped through the lungs, they collect oxygen, which they then release as they travel throughout the rest of the body. Most organs in the human body need oxygen in order to function correctly. In people with pyruvate kinase deficiency, red blood cells break down too easily. Soon there are not enough blood cells to deliver the necessary oxygen.

Pyruvate kinase deficiency can lead to severe complications. The most serious of these is hemolytic anemia, a form of anemia that results from too many red blood cells breaking down too quickly. The byproducts of the cell breakdown build up in the blood and urine, causing dark urine as well as jaundice, a yellowing of the skin and the whites of the eyes. If left untreated, hemolytic anemia can lead to organ failure, especially of the heart. A deficiency of pyruvate kinase is the second most common cause of hemolytic anemia.

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People who have pyruvate kinase deficiency may also get gallstones that continue to reoccur after treatment. Gallstones are small rock-like masses that form from the digestive bile in the gallbladder. They can cause inflammation and infection. Gallstones can be treated either with oral medication or through surgery. Most people are able to have their gallbladder removed without causing any health complications.

Having pyruvate kinase deficiency does not necessarily mean that the affected person will suffer from severe symptoms. Some people live relatively normal, healthy lives. Less serious symptoms of pyruvate kinase deficiency include fatigue, pale skin, and mild jaundice.

Those who do develop serious health issues caused by pyruvate kinase deficiency may be helped by a splenectomy. Removing the spleen tends to slow the destruction of red blood cells, though it does not work in all patients. Blood transfusions may also help those with severe anemia.

Pyruvate kinase deficiency is a recessive trait. Therefore both parents must have the defective form of the gene in order to pass it on to their child. It occurs in people of all different ethnicities around the world.

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discographer
Post 3

I have a Bengal cat with this enzyme deficiency. I just found out about it last week. Our veterinarian said that he recently read a report about pyruvate kinase deficiency becoming widespread among Bengal cats because of breeding. He recommended that we get our cat tested. We did and he has it.

Unfortunately, there is little we can do other than just take really good care of him. The vet said that he looks healthy and happy for now. We don't know how long he will be able to live, as it's sure to shorten his life-span. We also can't have him operated on for anything since he wouldn't be able to make it.

burcidi
Post 2

@simrin-- I don't think doctors recommend splenectomy as much for pyruvate kinase enzyme deficiency disease anymore. One reason is that it doesn't always work, just like the article said.

In addition to that, splenectomy could cause other complications and side effects, like iron overload. Sometimes, having the spleen removed increases iron absorption. Too much iron can be a serious problem and can cause damage to organs.

So it's a risky procedure with no guaranteed results. I personally think that blood transfusion is a better treatment.

SteamLouis
Post 1

I just heard from my mother that my cousin has been diagnosed with PK deficiency. The whole family is worried and we don't know what kind of treatment is available or best for her.

None of us had even heard about this enzyme before and I am surprised that one enzyme can have such serious affects on red blood cells and overall health.

It's all very new so we don't know if my cousin's condition is going to require blood transfusions just yet. I'm curious, has anyone with pyruvate kinase deficiency had a splenectomy? Did it improve your condition?

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