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What Causes Lactic Acidosis With Genetic Immune Deficiency?

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Posted on Mon, 19 May 2014
Question: My son just returned from the hospital (an overnight stay) due to a lactic acid level of 4.8. He previously had a grand mal seizure and was postictal prior to going to the hospital via ambulance. Ambulance personnel stated they did give him two sugars prior to getting to the hospital so his sugar was up to 108. My son has an unknown disease that is causing a genetic immune deficiency, low t and b cells. This is his third episode with lactic acidosis (the first two they attributed to alcohol consumption which is not the case this time). During previous incidents his sugar also dropped to dangerous levels and he became extremely diaphoretic, but was always conscious. This is the first time for seizure activity. His internist thinks it is a Type D lactic acidosis that could be GI related or a mitochondria disorder. I cannot find a lot of information on anything related to this. Can you advise as the internist now wants him to do genetic testing.
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Answered by Dr. M. Vamsi Krishna (5 hours later)
Brief Answer:
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
Note: For further follow-up, discuss your blood glucose reports with our diabetologist. Click here.

Above answer was peer-reviewed by : Dr. Yogesh D
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Answered by
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Dr. M. Vamsi Krishna

Diabetologist

Practicing since :2007

Answered : 988 Questions

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What Causes Lactic Acidosis With Genetic Immune Deficiency?

Brief Answer: 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