Pyruvate Kinase Deficiency: Morphology and Clinical Pathology

00:00 So what then happens to your RBC? It gets spiculated.

00:06 In other words, your RBC looks like it has little needle projections from the RBC.

00:12 So you definitely know that the RBC is misshapen.

00:14 And most likely, something to do with the decreased production of ATP because you’re stuck at? Well, you’re stuck at phosphoenolpyruvate, right? And whenever you have a misshapen RBC, where does it go for destruction? Hereditary spherocytosis, hereditary elliptocytosis, sickle cell.

00:34 All of them are going to go to the spleen, resulting in? Extravascular hemolysis.

00:38 Now, this is a child.

00:40 Whenever you have an enzyme deficiency, you’re born with a disorder.

00:45 Serum methemoglobin is elevated.

00:47 Why? NADH is inadequate.

00:53 Almost, well, most common error in glycolysis.

00:56 However, in terms of a disease though, it’s quite rare, but make sure that you know in greater detail all of the different points that we made here about pyruvate kinase deficiency.

01:07 What are you going to find? This RBC is going to take on bizarre shape.

01:11 And this bizarre shape is then known as an echinocyte, most likely due to as we said, inadequate amounts of ATP, having some type of influence in a negative manner on the sodium potassium pump in which you end up finding here on a peripheral blood smear are these weird spiculated type of echinocytes.