Whilst doing Glycolysis, we came across the enzyme Pyruvate Kinase. A lack of this particular enzyme results in a disease called Pyruvate Kinase Deficiency.People with this disorder have a condition known as chronic hemolytic anemia It’s really fascinating to know that lacking 1 little enzyme results in something so unfortunate. All enzymes are important but we might say it’s just 1 right? no harm…the human body is amazing… I never really knew this disease existed so when i read about it my exact reaction was SAY WHAAATTTTT??? Yall probably know by now that I like topics such as immunology, pathology and hematology. I tend to go on and on about diseases like anemia just because it’s really interesting :3 Sooo with that being said, Pyruvate kinase deficiency is the second most common cause of enzyme-deficient hemolytic anemia :O PK affects the survival of red blood cells and causes them to deform into echinocytes on peripheral blood smears. So what exactly causes this disease…mutations! That’s right! The main cause of many other diseases! Mutations cause a lack of the enzyme, therefore affecting the process of Glycolysis. ATP is made in Glycolysis. Pyruvate kinase, potentiates the last step of glycolysis ie the conversion of phosphoenolpyruvate to pyruvate. This results in the red blood cells having a minimum amount of energy. A lack of energy (ATP), affects other ATP-dependent processes, resulting in cells losing K+ and water and an intracellular accumulation of Na+. ‘Swelling’ therefore occurs. This swelling causes rigidity of the RBC’s and eventually splenic hemolysis from an inability to distort through splenic sinusoids.
Individuals severely affected may die or require blood transfusions. Treatment is usually effective in reducing the severity of the symptoms.