Pyruvate Kinase Deficiency

Enzymes are things invented by biologists that explain things which otherwise require harder thinking - Jerome Ysroael Lettvin

Pyruvate Kinase Deficiency
Pyruvate Kinase Deficiency

image by: Know PK Deficiency

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Psychological effects of PKD

The difficult thing about Pyruvate Kinase Deficiency is, that it feels like you can do anything. The anaemia is bad, but because the body is adapted to the low Hemoglobin, it is very difficult to think about the boundaries. A lot of people with PKD feel that they have to do everything. They don’t feel that they are sick and the PKD don’t give them too many stress. But after a while the symptoms can sometimes be more upfront, needing more transfusions. Sometimes a patient cannot function on the same Hemoglobin values anymore, so the Hb must go higher and that can create an awareness of being more sick than before.

When it’s getting…

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 Psychological effects of PKD

The difficult thing about Pyruvate Kinase Deficiency is, that it feels like you can do anything. The anaemia is bad, but because the body is adapted to the low Hemoglobin, it is very difficult to think about the boundaries.

Know PK Deficiency

To support and provide helpful disease information and resources to those impacted by pyruvate kinase (PK) deficiency - a chronic rare disease characterized by hereditary hemolytic anemia.

Pyruvate Kinase Deficiency,

The mission of this website is to answer your questions. It is created and managed by Charlotte, Jennifer, Laure, Maaike and Robert. We all have Pyruvate Kinase Deficiency and feel the need to have access to comprehensible information about this rare disorder. Although the website is still under construction, we hope you will find some valuable information.

European Network for Rare and Congenital Anaemias

This is a genetic disease. It is linked to a mutation of the PK gene, encoding the PK enzyme. This mutation is leading to a reduction of PK activity in red blood cells, with normal PK activity in leukocytes or platelets.

MedlinePlus

There are many different types of enzyme-related defects of the red blood cell that can cause hemolytic anemia. PKD is the second most common cause, after glucose-6-phosphate dehydrogenase (G6PD) deficiency.

NORD

It is one of a group of diseases known as hereditary nonspherocytic hemolytic anemias. (Nonspherocytic refers to the fact that the red blood cells do not assume a spherical shape, as they do with some blood disorders.

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