00:01
Pyruvate kinase deficiency, so kpd, pkd, sorry, pyruvate kinase deficiency.
00:10
So this is an inherited enzyme disorder that affect the blood cell.
00:15
So the pyruvate kinase deficiency is a genetic disorder.
00:22
So basically, this is a disease that would, this is actually a recessive autosomone, let's call this, due to the lack of the functional enzyme pyruvate kinase.
00:42
So recessive autosomber means that you need both copy non -functional to have this disease.
00:49
So none of the copy works.
00:52
So there is no pyruvate kinase produced.
01:14
We don't have this enzyme.
01:16
And this enzyme is essential for glycolysis.
01:20
This is how the body, i will see the primary pathway to produce energy atp.
01:29
And without this enzyme, so there will be trouble, such as chronic hematolithic anemia, or sorts of other more severe symptoms.
01:43
So let's write down the red blood cell.
01:45
This enzyme mostly occurs in the red blood cell.
01:54
And liver.
01:59
So when this enzyme is not working, not efficient activity, red blood cell and liver cannot produce enough atp because this enzyme is responsible for this process.
02:18
So as a result, and so the red blood cell will go through destruction, hemolysis.
02:34
The hemolysis would actually cause anemia.
02:39
So it's all related.
02:42
So the symptoms include fatigue, pale spleen, juandis, or jondas, the yellow skin color or the eye also become yellow, gosol, enlarged spleen.
03:38
So these are all the symptoms of hemolysis due to the destruction of replic cell and failed to produce enough atp.
03:48
Diagnosis.
03:55
So first of all, you will have to do a cbc and blood smear, blood panel and blood smear.
04:11
And you will see typically a normalytic anemia, meaning that the red blood cell themselves look fine, size -wise and shape -wise, you have less than normal count...