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What Do These Abnormal Organic Acids Screening Test Reports Indicate?
Question: Hello. Abnormal results on organic acids screening test. Mitochondria - Krebs cycle, Oxalate Metabolites, Fatty Acid Oxidation are abnormal and others. What further tests would you recommend? Symptoms are lifelong include low weight, constant fatigue, trouble with protein in food. Thank you
Brief Answer:
I would not recommend any further tests
Detailed Answer:
Thanks for asking on HealthcareMagic.
I have very carefully gone through the attached report. I understand your concerns. There are cetain inborn errors of amino acid metabolism thus leading to defects in biochemical pathways that regulate bodily functions. This is therefore related to inappropriate metabolism of food principles leading to low energy levels and poor weight gain. Nothing can be done to provide a 'cure'. Further investigation would be needed only if planning for some specific intervention is underway or if there is some other concrete purpose. If that is not the case, I do not see the role of further tests and therefore would not recommend further tests. In case you have some other query in this regard, please let me know and I would try to clear your query.
Regards
I would not recommend any further tests
Detailed Answer:
Thanks for asking on HealthcareMagic.
I have very carefully gone through the attached report. I understand your concerns. There are cetain inborn errors of amino acid metabolism thus leading to defects in biochemical pathways that regulate bodily functions. This is therefore related to inappropriate metabolism of food principles leading to low energy levels and poor weight gain. Nothing can be done to provide a 'cure'. Further investigation would be needed only if planning for some specific intervention is underway or if there is some other concrete purpose. If that is not the case, I do not see the role of further tests and therefore would not recommend further tests. In case you have some other query in this regard, please let me know and I would try to clear your query.
Regards
Above answer was peer-reviewed by :
Dr. Chakravarthy Mazumdar
Dr. XXXXXXX
Thank you for the reply. However, if the metabolic problem is not a known condition or disorder it is impossible to research or find improvement, however small. There is no way to keep abreast of the science. I did not mention that I have diagnosis of autism. Why it would be relevant I do not see but I hear that some claim a connection. But that is neurology not gastroenterology. Thank you again, XXXXXXX XXXX
Thank you for the reply. However, if the metabolic problem is not a known condition or disorder it is impossible to research or find improvement, however small. There is no way to keep abreast of the science. I did not mention that I have diagnosis of autism. Why it would be relevant I do not see but I hear that some claim a connection. But that is neurology not gastroenterology. Thank you again, XXXXXXX XXXX
Brief Answer:
We sometimes have limited understanding of relatively uncommon ailments
Detailed Answer:
Thanks for writing back.
I understand that the situation is indeed dismal. Medical science had evolved and has gone long ways from where we started but there are still a lot of things that we do not know. Although we have decoded the genome, there are a large number of portions of DNA, the function of which is grossly unknown for us. We also have a limited scope of intervention when the problem is at cellular or metabolic level and involves some basic biochemistry that governs our body. So, our scope of helping you out is limited.
When one abnormality is present, others are frequently present alongside. We do not always have a definite explanation to those associations.
Sorry for not being able to be more specific but if you have any further queries, feel free to write back and I would try my level best to clear it.
Regards
We sometimes have limited understanding of relatively uncommon ailments
Detailed Answer:
Thanks for writing back.
I understand that the situation is indeed dismal. Medical science had evolved and has gone long ways from where we started but there are still a lot of things that we do not know. Although we have decoded the genome, there are a large number of portions of DNA, the function of which is grossly unknown for us. We also have a limited scope of intervention when the problem is at cellular or metabolic level and involves some basic biochemistry that governs our body. So, our scope of helping you out is limited.
When one abnormality is present, others are frequently present alongside. We do not always have a definite explanation to those associations.
Sorry for not being able to be more specific but if you have any further queries, feel free to write back and I would try my level best to clear it.
Regards
Above answer was peer-reviewed by :
Dr. Chakravarthy Mazumdar
Re - Organic Acids Test
Hello,
Here is a reply from an MD/Professor in the area of metabolics:
---
Dear Dr.
There is orotic aciduria suggestive of a metabolic disorder. He also has glutaric aciduria.
He may benefit from ornithine aspartate (Analiv 500mg 4 times a day), Methycobal 1500 microgram daily and Riboflavin 10 mg daily.
Thanking you
Prof. XXXXXXX XXXX
Metabolic Disorders Research Centre
----
Would you comment on the Analiv, methycobal and riboflavin?
Is there any other treatment you are aware of, however small the study?
I am aware that acidurias are not common.
However, a chromosomal microarray test reveals abnormality, chromosome 17.
This chromosome is studied in regard to acidurias.
Thank you, XXXXXXX XXXX
Hello,
Here is a reply from an MD/Professor in the area of metabolics:
---
Dear Dr.
There is orotic aciduria suggestive of a metabolic disorder. He also has glutaric aciduria.
He may benefit from ornithine aspartate (Analiv 500mg 4 times a day), Methycobal 1500 microgram daily and Riboflavin 10 mg daily.
Thanking you
Prof. XXXXXXX XXXX
Metabolic Disorders Research Centre
----
Would you comment on the Analiv, methycobal and riboflavin?
Is there any other treatment you are aware of, however small the study?
I am aware that acidurias are not common.
However, a chromosomal microarray test reveals abnormality, chromosome 17.
This chromosome is studied in regard to acidurias.
Thank you, XXXXXXX XXXX
Brief Answer:
I have indicated an FDA approved drug in the answer.
Detailed Answer:
Thanks for mentioning the details of the opinion of a specialist from the area of metabolics. Orotic acdiuria is a known entity. The following link will give you an idea of the condition:
http://www XXXXXXX co/orotic-aciduria-causes-clinical-manifestations-diagnosis-and-treatment/
Orotic aciduria is frequently associated with megaloblastic anemia due to deficiency of an enzyme called UMP synthase def. However it is refractory to vitamin B12 and I do not think that methylcobal and riboflavin would be helpful. (See: http://bloodjournal.hematologylibrary.org/content/14/6/615.long ). However, it is more likely to respond to Uridine (See: http://archpedi.jamanetwork.com/article.aspx?articleid=502271 )
Analiv is likely to be helpful since this condition is frequently associated with ornithine transcarbamylase deficiency. However, there are other treatment options available [with glycerol phenylbutyrate (Ravicti)] and you should discuss them with your specialist on metabolism. (See: http://emedicine.medscape.com/article/950672-overview )
Its good to know that chromosomal analysis has given the exact locus that is the source of the problems.
Regards
I have indicated an FDA approved drug in the answer.
Detailed Answer:
Thanks for mentioning the details of the opinion of a specialist from the area of metabolics. Orotic acdiuria is a known entity. The following link will give you an idea of the condition:
http://www XXXXXXX co/orotic-aciduria-causes-clinical-manifestations-diagnosis-and-treatment/
Orotic aciduria is frequently associated with megaloblastic anemia due to deficiency of an enzyme called UMP synthase def. However it is refractory to vitamin B12 and I do not think that methylcobal and riboflavin would be helpful. (See: http://bloodjournal.hematologylibrary.org/content/14/6/615.long ). However, it is more likely to respond to Uridine (See: http://archpedi.jamanetwork.com/article.aspx?articleid=502271 )
Analiv is likely to be helpful since this condition is frequently associated with ornithine transcarbamylase deficiency. However, there are other treatment options available [with glycerol phenylbutyrate (Ravicti)] and you should discuss them with your specialist on metabolism. (See: http://emedicine.medscape.com/article/950672-overview )
Its good to know that chromosomal analysis has given the exact locus that is the source of the problems.
Regards
Above answer was peer-reviewed by :
Dr. Neel Kudchadkar
Re - Organic Acids Test, Aciduria
Dr.,
The information I see about aciduria led to information about red blood cells.
These are connected?
A test report is uploaded, Platelet test, from earlier.
There is something unusual about MCH, which I understand to be red blood cell.
Would you examine the report and provide your opinions?
Thank you, XXXXXXX XXXXX
Dr.,
The information I see about aciduria led to information about red blood cells.
These are connected?
A test report is uploaded, Platelet test, from earlier.
There is something unusual about MCH, which I understand to be red blood cell.
Would you examine the report and provide your opinions?
Thank you, XXXXXXX XXXXX
Brief Answer:
I have explained the correlations
Detailed Answer:
Thanks for writing back. Sorry for not being able to respond earlier. I have gone through the attached report. It does not seem to be directly related to the aciduria. However, since there is a metabolic defect and since the energy production is hampered it is possible that there is recruitment of more red blood corpuscles (RBCs or the cells that transport oxygen) to meet the crisis.
Hemoglobin is contained within the red blood corpuscles. The hemoglobin level is high. So, the amount of hemoglobin (MCH or mean corpuscular hemoglobin) is high. Furthermore, the blood contains a cellular and a liquid content. The percentage of these form the hematocrit. Since the total amount of cellular volume is high, the hematocrit is high.
The Albumin:Globulin ratio is altered since the globulin is in the lower normal range. The globulins contribute to the immunity and the lower immunity status could relate to the metabolic condition.
I would not worry about the other parameters.
Regards
I have explained the correlations
Detailed Answer:
Thanks for writing back. Sorry for not being able to respond earlier. I have gone through the attached report. It does not seem to be directly related to the aciduria. However, since there is a metabolic defect and since the energy production is hampered it is possible that there is recruitment of more red blood corpuscles (RBCs or the cells that transport oxygen) to meet the crisis.
Hemoglobin is contained within the red blood corpuscles. The hemoglobin level is high. So, the amount of hemoglobin (MCH or mean corpuscular hemoglobin) is high. Furthermore, the blood contains a cellular and a liquid content. The percentage of these form the hematocrit. Since the total amount of cellular volume is high, the hematocrit is high.
The Albumin:Globulin ratio is altered since the globulin is in the lower normal range. The globulins contribute to the immunity and the lower immunity status could relate to the metabolic condition.
I would not worry about the other parameters.
Regards
Above answer was peer-reviewed by :
Dr. Chakravarthy Mazumdar
Re - Organic Acids Test, Aciduria
Dr.,
I see that aciduria is alongside Megaloblastic Anemia.
If Megaloblastic Anemia is not present, which I do not know,
this rules out aciduria?
Is that correct?
Thank you, XXXXXXX XXXX
Dr.,
I see that aciduria is alongside Megaloblastic Anemia.
If Megaloblastic Anemia is not present, which I do not know,
this rules out aciduria?
Is that correct?
Thank you, XXXXXXX XXXX
Brief Answer:
No it does not rule out
Detailed Answer:
No, absence of megaloblastic anemia does not rule out Orotic acdiuria which you are already known to have.
Regards
No it does not rule out
Detailed Answer:
No, absence of megaloblastic anemia does not rule out Orotic acdiuria which you are already known to have.
Regards
Above answer was peer-reviewed by :
Dr. Chakravarthy Mazumdar
Dr.,
Thank you for your reply.
Would you look at the report, Vitamin B12 and Folate?
It is uploaded.
The test was done for possible anemia.
The result was mentioned as odd because
Folate normal is >5.4.
The result is not deficiency. It is 16.1.
Is this level also normal and healthy?
Thank you, XXXXXXX XXXXX
Thank you for your reply.
Would you look at the report, Vitamin B12 and Folate?
It is uploaded.
The test was done for possible anemia.
The result was mentioned as odd because
Folate normal is >5.4.
The result is not deficiency. It is 16.1.
Is this level also normal and healthy?
Thank you, XXXXXXX XXXXX
Brief Answer:
The vitamin B12 and folate levels are indeed normal
Detailed Answer:
Thanks again for writing back.
I have checked the attached reports. Indeed the vitamin B12 and folate levels are normal and there seems to be no deficiency.
Regards
The vitamin B12 and folate levels are indeed normal
Detailed Answer:
Thanks again for writing back.
I have checked the attached reports. Indeed the vitamin B12 and folate levels are normal and there seems to be no deficiency.
Regards
Above answer was peer-reviewed by :
Dr. Raju A.T
Dr.,
Uploaded is blood test report
Amino Acids
There is an abnormal result (high) for an amino acid.
Would you look at the report and say
1.What is this amino acid for in the body?
2. Why would it be high?
3. What would happen if it were excessive?
Thank you, XXXXXXX XXXXX
Uploaded is blood test report
Amino Acids
There is an abnormal result (high) for an amino acid.
Would you look at the report and say
1.What is this amino acid for in the body?
2. Why would it be high?
3. What would happen if it were excessive?
Thank you, XXXXXXX XXXXX
Brief Answer:
Amino acids are structural ingredients on which proteins are built
Detailed Answer:
Thanks for writing back. Sorry for not being able to respond earlier. I have gone through the attached report.
* Serine is an important amino acid. Since the body can manufacture it from other ingredients, it is not an essential amino acid. But like other amino acids they are a structural component of proteins of which our body is made of. If you are interested in knowing specific functions, you can look up:
https://en.wikipedia.org/wiki/Serine#Biological_function
* Due to error in metabolic pathway, its production is increased and hence it is high.
* I am not sure of the specific implications of serine excess but it could mess up with cell signalling and production of other metabolic items. It could lead to teratogenic effects during early embryonic development (but that is not relevant to you unless you are a female bearing a child). Serine excess leads to misalignment of muscle fibers and motor neuron defects, especially secondary motor neuron axonal growth defects. It could also increase the possibilities of getting Alzeimer's disease.
Regards
Amino acids are structural ingredients on which proteins are built
Detailed Answer:
Thanks for writing back. Sorry for not being able to respond earlier. I have gone through the attached report.
* Serine is an important amino acid. Since the body can manufacture it from other ingredients, it is not an essential amino acid. But like other amino acids they are a structural component of proteins of which our body is made of. If you are interested in knowing specific functions, you can look up:
https://en.wikipedia.org/wiki/Serine#Biological_function
* Due to error in metabolic pathway, its production is increased and hence it is high.
* I am not sure of the specific implications of serine excess but it could mess up with cell signalling and production of other metabolic items. It could lead to teratogenic effects during early embryonic development (but that is not relevant to you unless you are a female bearing a child). Serine excess leads to misalignment of muscle fibers and motor neuron defects, especially secondary motor neuron axonal growth defects. It could also increase the possibilities of getting Alzeimer's disease.
Regards
Above answer was peer-reviewed by :
Dr. Prasad
Dr.,
Thank you for the reply.
A report is uploaded
Acylcarnitine Profile
Would you look at the report and say
1. What is "C3 dicarboxylic acid" for in the body?
2. Why would it be high?
3. What are some consequence of excessive acid?
Thank you, XXXXXXX XXXXX
Thank you for the reply.
A report is uploaded
Acylcarnitine Profile
Would you look at the report and say
1. What is "C3 dicarboxylic acid" for in the body?
2. Why would it be high?
3. What are some consequence of excessive acid?
Thank you, XXXXXXX XXXXX
Brief Answer:
C3 dicarboxylic acid refers to serine and its acyl derivatives
Detailed Answer:
Thanks for writing back again.
Amino acids or fatty acids have a hydrocarbon backbone where a series can be formed as number of carbons increases by one. In case of an amino acid, there is an amino group and an acid group (carboxyl group). The rest is the hydrocarbon backbone. And there are certain variations on this structure but the basis structure is the same. The report shows the amount of such compounds arranged according to the number of carbons. Serine is a dicarboxylic acid, the one shown to be in excess in this report. It is just another way to look at the same thing. Since you do not have the theoretical background, it should not be easy for you to understand. But I hope that you get the idea.
Regards
C3 dicarboxylic acid refers to serine and its acyl derivatives
Detailed Answer:
Thanks for writing back again.
Amino acids or fatty acids have a hydrocarbon backbone where a series can be formed as number of carbons increases by one. In case of an amino acid, there is an amino group and an acid group (carboxyl group). The rest is the hydrocarbon backbone. And there are certain variations on this structure but the basis structure is the same. The report shows the amount of such compounds arranged according to the number of carbons. Serine is a dicarboxylic acid, the one shown to be in excess in this report. It is just another way to look at the same thing. Since you do not have the theoretical background, it should not be easy for you to understand. But I hope that you get the idea.
Regards
Above answer was peer-reviewed by :
Dr. Chakravarthy Mazumdar
Dr.,
Uploaded is report
Nonesterified Fatty Acids
Would you look at this report and explain what is
"Sample Moderately Hemolyzed"?
Is this a mistake made at the laboratory and the sample is contaminated?
Thank you, XXXXXXX XXXXX
Uploaded is report
Nonesterified Fatty Acids
Would you look at this report and explain what is
"Sample Moderately Hemolyzed"?
Is this a mistake made at the laboratory and the sample is contaminated?
Thank you, XXXXXXX XXXXX
Brief Answer:
Hemolysis could occur due to factors during collection or storage
Detailed Answer:
Thanks for contacting me back once again.
The blood sample contains red blood cells suspended in plasma. Due to factors like narrow lumen of needle, squeezing during collection or due to degradation during storage, the red blood cells may disintegrate or hemolyze. The sample that was collected, was partially hemolyzed when the laboratory analysis was done. The hemolysis could have made some difference in the results obtained and hence that has been mentioned in the report. Hemolysis is not a result of contamination. However, you can request the lab to draw a fresh sample and give a fresh report for the charges already paid.
Hope that clarifies your queries.
Regards
Hemolysis could occur due to factors during collection or storage
Detailed Answer:
Thanks for contacting me back once again.
The blood sample contains red blood cells suspended in plasma. Due to factors like narrow lumen of needle, squeezing during collection or due to degradation during storage, the red blood cells may disintegrate or hemolyze. The sample that was collected, was partially hemolyzed when the laboratory analysis was done. The hemolysis could have made some difference in the results obtained and hence that has been mentioned in the report. Hemolysis is not a result of contamination. However, you can request the lab to draw a fresh sample and give a fresh report for the charges already paid.
Hope that clarifies your queries.
Regards
Above answer was peer-reviewed by :
Dr. Chakravarthy Mazumdar
Dr.,
Upload is test result
Ammonia Plasma
Question is -
The advice to me was if organic acids urine shows ammonia
is high then to look at blood as well.
Would you look at this in reference to the other
tests at Healthcaremagic file and say if it
is relevent to them?
Does this provide relevant information?
Thank you, XXXXXXXXX
Upload is test result
Ammonia Plasma
Question is -
The advice to me was if organic acids urine shows ammonia
is high then to look at blood as well.
Would you look at this in reference to the other
tests at Healthcaremagic file and say if it
is relevent to them?
Does this provide relevant information?
Thank you, XXXXXXXXX
Brief Answer:
The linkage is explainable.
Detailed Answer:
Thanks for asking on HealthcareMagic.
As you know, that you have an excess of serine, which is a dicarboxylic acid derivative. Serine can be deaminated (NH2 group removed to produce ammonia) to give rise to glutaric acid which is a dicarboxylic acid. The reaction can proceed in either direction depending upon the scenario. Hence you have both excess of glutaric acid and ammonia. This explains the significance of your plasma ammonia. The blood levels will reflect in the urine as well.
Regards
The linkage is explainable.
Detailed Answer:
Thanks for asking on HealthcareMagic.
As you know, that you have an excess of serine, which is a dicarboxylic acid derivative. Serine can be deaminated (NH2 group removed to produce ammonia) to give rise to glutaric acid which is a dicarboxylic acid. The reaction can proceed in either direction depending upon the scenario. Hence you have both excess of glutaric acid and ammonia. This explains the significance of your plasma ammonia. The blood levels will reflect in the urine as well.
Regards
Above answer was peer-reviewed by :
Dr. Chakravarthy Mazumdar
Dr.,
Sorry forgot to add why I enquire
about blood ammonia.
Orotic aciduria is excretion of orotic acid in urine.
The test shows 2.5 times outside high marker for this.
Apparently, there are 2 causes.
1. Autosomal recessive
2. Blockage of urea cycle, "Ornithine transcarbamylase deficiency"
Orotic acuduria that is made by urea cycle defect
would have evidence of blood ammonia and blood urea
nitrogen. The BUN is normal also.
Is this correct?
Thank you, XXXXXXX XXXXX
Sorry forgot to add why I enquire
about blood ammonia.
Orotic aciduria is excretion of orotic acid in urine.
The test shows 2.5 times outside high marker for this.
Apparently, there are 2 causes.
1. Autosomal recessive
2. Blockage of urea cycle, "Ornithine transcarbamylase deficiency"
Orotic acuduria that is made by urea cycle defect
would have evidence of blood ammonia and blood urea
nitrogen. The BUN is normal also.
Is this correct?
Thank you, XXXXXXX XXXXX
Brief Answer:
Amino acidurias are complex diseases
Detailed Answer:
Thanks again for writing back.
In my last explanation I have clearly indicated the source of ammonia (deamination of amino acids). This ammonia is converted into urea for elimination. A defect in urea cycle therefore leads to increase in BUN (blood urea nitrogen). There are parallel and alternative pathways which could reduce the BUN transiently to normal levels but I am certain that at other times your BUN and ammonia are high. Unless that is the case, it cannot show up in urine. That is all I can explain from my side.
Regards
Amino acidurias are complex diseases
Detailed Answer:
Thanks again for writing back.
In my last explanation I have clearly indicated the source of ammonia (deamination of amino acids). This ammonia is converted into urea for elimination. A defect in urea cycle therefore leads to increase in BUN (blood urea nitrogen). There are parallel and alternative pathways which could reduce the BUN transiently to normal levels but I am certain that at other times your BUN and ammonia are high. Unless that is the case, it cannot show up in urine. That is all I can explain from my side.
Regards
Above answer was peer-reviewed by :
Dr. Chakravarthy Mazumdar
Dr.,
Thank you for the reply.
Glutaric, orotic acid is high in urine. Serine high in blood.
In your post you explained amino acid serine changes into glutaric acid.
If serine is elevated in blood, glutaric acid urine is elevated.
This applies to elevated orotic acid as well, serine changes into
orotic acid.
Glutaric and orotic can be explained with one cause, not
two independent cause.
Is that correct?
Thank you, XXXXXXX XXXX
Thank you for the reply.
Glutaric, orotic acid is high in urine. Serine high in blood.
In your post you explained amino acid serine changes into glutaric acid.
If serine is elevated in blood, glutaric acid urine is elevated.
This applies to elevated orotic acid as well, serine changes into
orotic acid.
Glutaric and orotic can be explained with one cause, not
two independent cause.
Is that correct?
Thank you, XXXXXXX XXXX
Brief Answer:
Yes, its correct.
Detailed Answer:
Yes, I have explained it as one single cause with the possible interrelations in between.
Hope that it has cleared your query. In case you found my answer to be helpful, please close the thread with a positive review and a 5 star rating.
Regards
Yes, its correct.
Detailed Answer:
Yes, I have explained it as one single cause with the possible interrelations in between.
Hope that it has cleared your query. In case you found my answer to be helpful, please close the thread with a positive review and a 5 star rating.
Regards
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Above answer was peer-reviewed by :
Dr. Chakravarthy Mazumdar
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