What Causes Lactic Acidosis With Genetic Immune Deficiency?
Dear madam i can understand concern.I am very sorr
Detailed Answer:
Dear madam i can understand concern.I am very sorry for condition of your son.After going through the history in my opinion the condition is more probably due to increased bacterial growth in intestine.Due to immune deficiency there might be unopposed bacterial growth which converts your glucose into D-lactate,causing lactic acidosis.
This condition is treatable
1.Avoiding simple sugars.
2.Giving a course of antibiotics to regulate growth of bacteria.
Simple test like HYDROGEN BREATH TEST can be suggested to find about bacterial over growth.
Considering the second possible diagnosis--mitochondrial disorder.
There is a Rare condition called MELAS syndrome.This syndrome consist of lactic acidosis and Mitochondrial encephalomyopathy, and stroke-like episodes.
But as per history,since This is the first time he is getting seizure so mitochondrial related disease is unlikely.usually there will be family history in mitochondrial disorders since most of them are inherited from parents.
In my opinion the seizure activity is due to elevated levels of lactic acid and hypoxia.
By doing the genetic test we can exclude the mitochondrial involvement,kindly go for it.
kindly get back to me for any more information.
Relax he will recover soon and will have a healthy life.
Regards
Dr XXXXXXX XXXXXXX
Consultant Diabetologist