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Anyone know anything about Biochemical Genetics and Organic Acids?

 
PENG

User ID: 1159762
United States
02/07/2013 12:34 PM

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Anyone know anything about Biochemical Genetics and Organic Acids?
What would be causes of organic acid levels to be high? I am having a difficult time finding info on this. And genetists are not helpful.

Anyone a savant of genetics and amino acids??
"May the road rise up to meet you.... May the wind be always at your back..."
Anonymous Coward
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02/07/2013 12:40 PM
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Re: Anyone know anything about Biochemical Genetics and Organic Acids?
be more specific
PENG (OP)

User ID: 1159762
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02/07/2013 01:02 PM

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Re: Anyone know anything about Biochemical Genetics and Organic Acids?
be more specific
 Quoting: Anonymous Coward 425925


My sons urinalysis results show several of the organic acids high.
Citric acid, glutaric acid, sebacic acid, etc etc etc. along with high carnitine levels and low creatine levels.

All very confusing.
"May the road rise up to meet you.... May the wind be always at your back..."
Anonymous Coward
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02/07/2013 01:03 PM
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Re: Anyone know anything about Biochemical Genetics and Organic Acids?
be more specific
 Quoting: Anonymous Coward 425925


My sons urinalysis results show several of the organic acids high.
Citric acid, glutaric acid, sebacic acid, etc etc etc. along with high carnitine levels and low creatine levels.

All very confusing.
 Quoting: PENG


He doesn't drink enough water...it's seriously that simple
PENG (OP)

User ID: 1159762
United States
02/07/2013 01:04 PM

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Re: Anyone know anything about Biochemical Genetics and Organic Acids?
be more specific
 Quoting: Anonymous Coward 425925


My sons urinalysis results show several of the organic acids high.
Citric acid, glutaric acid, sebacic acid, etc etc etc. along with high carnitine levels and low creatine levels.

All very confusing.
 Quoting: PENG


He doesn't drink enough water...it's seriously that simple
 Quoting: Anonymous Coward 27250682


Really, I wish. Because he actually drinks alot. He is very small for his age too.
"May the road rise up to meet you.... May the wind be always at your back..."
Anonymous Coward
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02/07/2013 01:11 PM
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Re: Anyone know anything about Biochemical Genetics and Organic Acids?
does he sometimes not want to eat for extended periods of time? as well, what is hes excercise routine?
PENG (OP)

User ID: 1159762
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02/07/2013 01:12 PM

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Re: Anyone know anything about Biochemical Genetics and Organic Acids?
be more specific
 Quoting: Anonymous Coward 425925


[link to img194.imageshack.us]
That's just one set. I just don't understand if it is diet related. I mean I understand genes are genes, so are these numbers absolute? Can they be changed?
"May the road rise up to meet you.... May the wind be always at your back..."
*HEISENBERG*

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02/07/2013 01:12 PM
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Re: Anyone know anything about Biochemical Genetics and Organic Acids?
Lots of water, lots of green veggies!
Anonymous Coward
User ID: 425925
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02/07/2013 01:46 PM
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Re: Anyone know anything about Biochemical Genetics and Organic Acids?
be more specific
 Quoting: Anonymous Coward 425925


[link to img194.imageshack.us]
That's just one set. I just don't understand if it is diet related. I mean I understand genes are genes, so are these numbers absolute? Can they be changed?
 Quoting: PENG


I assume these levels were determined after two consecutive tests? They should be 24 hrs apart exactly to determine parts per minute.

If so, and this is the final result within the above parameters I gave you. Then there are only a few possibilities.


It has been a while since I studied this in school but I remember most of it.
PENG (OP)

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02/07/2013 01:53 PM

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Re: Anyone know anything about Biochemical Genetics and Organic Acids?
does he sometimes not want to eat for extended periods of time? as well, what is hes excercise routine?
 Quoting: Anonymous Coward 425925


No he does not care about food. He is very thin but his immune system s well, meaning he rarely gets sick.
He is not a couch potato, but he doesn't do sports. Low muscle tone.
"May the road rise up to meet you.... May the wind be always at your back..."
PENG (OP)

User ID: 29045016
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02/07/2013 01:59 PM

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Re: Anyone know anything about Biochemical Genetics and Organic Acids?
be more specific
 Quoting: Anonymous Coward 425925


[link to img194.imageshack.us]
That's just one set. I just don't understand if it is diet related. I mean I understand genes are genes, so are these numbers absolute? Can they be changed?
 Quoting: PENG


I assume these levels were determined after two consecutive tests? They should be 24 hrs apart exactly to determine parts per minute.

If so, and this is the final result within the above parameters I gave you. Then there are only a few possibilities.


It has been a while since I studied this in school but I remember most of it.
 Quoting: Anonymous Coward 425925


Actually, there was a second set done but it was not done back to back. I think it was a month or so. Some of the "out of the ballpark" numbers came back "ND" on the second tests. Acetoacetic acid and the 3-OH Butyric came back ND. They said could be a lab error and wanted to run a third test later. We said no at that point because of the incompetence of the whole process. Very upsetting for all of us. I can pull up the second set.
"May the road rise up to meet you.... May the wind be always at your back..."
Anonymous Coward
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02/07/2013 02:01 PM
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Re: Anyone know anything about Biochemical Genetics and Organic Acids?
does he sometimes not want to eat for extended periods of time? as well, what is hes excercise routine?
 Quoting: Anonymous Coward 425925


No he does not care about food. He is very thin but his immune system s well, meaning he rarely gets sick.
He is not a couch potato, but he doesn't do sports. Low muscle tone.
 Quoting: PENG


read my above quote about two tests in 24 hours. make sure that is done properly. I will ask a colleague of mine about this and get back to you later this evening.

Have they ran tests for liver disease and MD yet?
PENG (OP)

User ID: 29045016
United States
02/07/2013 02:02 PM

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Re: Anyone know anything about Biochemical Genetics and Organic Acids?
be more specific
 Quoting: Anonymous Coward 425925


[link to img194.imageshack.us]
That's just one set. I just don't understand if it is diet related. I mean I understand genes are genes, so are these numbers absolute? Can they be changed?
 Quoting: PENG


I assume these levels were determined after two consecutive tests? They should be 24 hrs apart exactly to determine parts per minute.

If so, and this is the final result within the above parameters I gave you. Then there are only a few possibilities.


It has been a while since I studied this in school but I remember most of it.
 Quoting: Anonymous Coward 425925


Actually, there was a second set done but it was not done back to back. I think it was a month or so. Some of the "out of the ballpark" numbers came back "ND" on the second tests. Acetoacetic acid and the 3-OH Butyric came back ND. They said could be a lab error and wanted to run a third test later. We said no at that point because of the incompetence of the whole process. Very upsetting for all of us. I can pull up the second set.
 Quoting: PENG


Second set. [link to img202.imageshack.us]
I can't remember if he had to fast for this one. Sorry.
"May the road rise up to meet you.... May the wind be always at your back..."
PENG (OP)

User ID: 1159762
United States
02/07/2013 03:31 PM

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Re: Anyone know anything about Biochemical Genetics and Organic Acids?
does he sometimes not want to eat for extended periods of time? as well, what is hes excercise routine?
 Quoting: Anonymous Coward 425925


No he does not care about food. He is very thin but his immune system s well, meaning he rarely gets sick.
He is not a couch potato, but he doesn't do sports. Low muscle tone.
 Quoting: PENG


read my above quote about two tests in 24 hours. make sure that is done properly. I will ask a colleague of mine about this and get back to you later this evening.

Have they ran tests for liver disease and MD yet?
 Quoting: Anonymous Coward 425925


Thanks so much. His liver enzymes were fine. Had heart checked out. Completely fine. Going to see an endocrinologist next week.
It's so confusing what it means. They said he may have a metabolic disease, but when the second results came back, they said no evidence.

Made no sense and we went thru hell. It wasn't until I looked thru one blood test and saw it was not his... It was of a two month old, that the head of Emory genetics had a conference call with me and went thru all results.... Then explained how I needed to shred the other patients tests. What a joke.
He said that we should probably see an endocrinologist.

Very very frustrating.
Thank you for reading thru this.

I'll edit that I reviewed his "Plasma" amino acids results and those were normal. The urine were the disconcerting test results

Last Edited by PENG on 02/07/2013 03:38 PM
"May the road rise up to meet you.... May the wind be always at your back..."
Anonymous Coward
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02/07/2013 06:39 PM
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Re: Anyone know anything about Biochemical Genetics and Organic Acids?
does he sometimes not want to eat for extended periods of time? as well, what is hes excercise routine?
 Quoting: Anonymous Coward 425925


No he does not care about food. He is very thin but his immune system s well, meaning he rarely gets sick.
He is not a couch potato, but he doesn't do sports. Low muscle tone.
 Quoting: PENG


read my above quote about two tests in 24 hours. make sure that is done properly. I will ask a colleague of mine about this and get back to you later this evening.

Have they ran tests for liver disease and MD yet?
 Quoting: Anonymous Coward 425925


Thanks so much. His liver enzymes were fine. Had heart checked out. Completely fine. Going to see an endocrinologist next week.
It's so confusing what it means. They said he may have a metabolic disease, but when the second results came back, they said no evidence.

Made no sense and we went thru hell. It wasn't until I looked thru one blood test and saw it was not his... It was of a two month old, that the head of Emory genetics had a conference call with me and went thru all results.... Then explained how I needed to shred the other patients tests. What a joke.
He said that we should probably see an endocrinologist.

Very very frustrating.
Thank you for reading thru this.

I'll edit that I reviewed his "Plasma" amino acids results and those were normal. The urine were the disconcerting test results
 Quoting: PENG


For best results, like I said earlier, they MUST be done 24 hrs apart for a proper analysis. I imagine you will find that they improperly blah blah... you know....fucked up is the best phrase. Anymore for profit, they pass things on to interns that are not supervised.

So, since some diagonses have been ruled out: IE liver and MD, you are on the right track for sure.

I would double check everything they so and say, but the lack of appetite has me concerned somewhat. Typically you will would see this in a high profile athletes results but that is why they slip in the creatine supplements to "balance" the act out so to speak. Then they also have to take cleaners so as to not get caught.

If he were my son, and I do have one, I would look into all of the essential oils, and natural herbs that are available. There are many, but make sure they are from a reputable source and are not irradiated. That removes all the natural part of the herb that "works its magic" so to speak. Also, look into a cleanse of the liver and kidneys, but DO NOT do at the same time. Check out Andreas Moritz. His work well and are quite simple. I have seen this work for many.

Then finally just a well balanced meal. Lots of organic veggies and fruits. Easy on the protein and carbs, but you can research that yourself obviously.

Certain blood types require a different diet, so that will be very helpful as well

And if you could, update every once in a while, I would like to know how everything turns out, I have this saved on my favs and will look from time to time if you do not mind.

Good luck

P.S. Raise his alkaline levels too!
PENG (OP)

User ID: 1159762
United States
02/07/2013 07:49 PM

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Re: Anyone know anything about Biochemical Genetics and Organic Acids?
...


No he does not care about food. He is very thin but his immune system s well, meaning he rarely gets sick.
He is not a couch potato, but he doesn't do sports. Low muscle tone.
 Quoting: PENG


read my above quote about two tests in 24 hours. make sure that is done properly. I will ask a colleague of mine about this and get back to you later this evening.

Have they ran tests for liver disease and MD yet?
 Quoting: Anonymous Coward 425925


Thanks so much. His liver enzymes were fine. Had heart checked out. Completely fine. Going to see an endocrinologist next week.
It's so confusing what it means. They said he may have a metabolic disease, but when the second results came back, they said no evidence.

Made no sense and we went thru hell. It wasn't until I looked thru one blood test and saw it was not his... It was of a two month old, that the head of Emory genetics had a conference call with me and went thru all results.... Then explained how I needed to shred the other patients tests. What a joke.
He said that we should probably see an endocrinologist.

Very very frustrating.
Thank you for reading thru this.

I'll edit that I reviewed his "Plasma" amino acids results and those were normal. The urine were the disconcerting test results
 Quoting: PENG


For best results, like I said earlier, they MUST be done 24 hrs apart for a proper analysis. I imagine you will find that they improperly blah blah... you know....fucked up is the best phrase. Anymore for profit, they pass things on to interns that are not supervised.

So, since some diagonses have been ruled out: IE liver and MD, you are on the right track for sure.

I would double check everything they so and say, but the lack of appetite has me concerned somewhat. Typically you will would see this in a high profile athletes results but that is why they slip in the creatine supplements to "balance" the act out so to speak. Then they also have to take cleaners so as to not get caught.

If he were my son, and I do have one, I would look into all of the essential oils, and natural herbs that are available. There are many, but make sure they are from a reputable source and are not irradiated. That removes all the natural part of the herb that "works its magic" so to speak. Also, look into a cleanse of the liver and kidneys, but DO NOT do at the same time. Check out Andreas Moritz. His work well and are quite simple. I have seen this work for many.

Then finally just a well balanced meal. Lots of organic veggies and fruits. Easy on the protein and carbs, but you can research that yourself obviously.

Certain blood types require a different diet, so that will be very helpful as well

And if you could, update every once in a while, I would like to know how everything turns out, I have this saved on my favs and will look from time to time if you do not mind.

Good luck

P.S. Raise his alkaline levels too!
 Quoting: Anonymous Coward 425925


Thank you so much. I appreciate your insight. I have a load of EO's but have yet to figure out what is best for him. There is too many sights with different options on what works.
The first opinion was that his body goes into ketosis, they even said maybe SCOT metabolic disease which is VERY rare. But second results said no MD. WTF.

I'll look into raising alkaline levels. I give him L-Carnitine liquid supplement and Vit D and B complex and Cod oil. Idk.... The genetists were of very little help and more concerned about me shredding the wrong patients results they gave me. Sad shame.
Thank you! And I will update. Poor little guy has an anxiety disorder over all this. Afraid he is going to die. He is going to freak out when he hears we are going to a doctor next week!
"May the road rise up to meet you.... May the wind be always at your back..."
SE

User ID: 1673157
Canada
02/07/2013 08:20 PM
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Re: Anyone know anything about Biochemical Genetics and Organic Acids?
1st what is making you so concerned about URINE levels??
Is he sick? Have other health issues you believe related to this?

I take it you're fully aware that urine is waste and excess that the body doesn't need.

What's the PH test say and what's Uric Acid level in umol/L?

List a typical day's food intake and ALL supplements you are giving.

Blood serum levels show normal?

Last Edited by SE on 02/07/2013 08:22 PM
PENG (OP)

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02/08/2013 02:16 PM

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Re: Anyone know anything about Biochemical Genetics and Organic Acids?
1st what is making you so concerned about URINE levels??
Is he sick? Have other health issues you believe related to this?

I take it you're fully aware that urine is waste and excess that the body doesn't need.

What's the PH test say and what's Uric Acid level in umol/L?

List a typical day's food intake and ALL supplements you are giving.

Blood serum levels show normal?
 Quoting: SE


I need to get back to you on tests. I wasn't the one concerned, it was the doctors. I don't understand why the urine tests were so important. Honestly, I have been very frustrated.
I do know that his creatinine levels were high in blood tests. The BUN creatinine ratio was high. His L carnitine levels were low. This has been consistent in tests that were done over the course of 5 years. Also he has low Carbon Dioxide levels. Again, consistent over the years.

The reason he was tested was because of "failure to thrive" and mild hypotonia.... And developmental delays. He is small for his age. 58 lbs at almost 12 years old. And short. Low muscle tone.

High native IQ 121 but very low academic... 8th %.

I am just trying to figure out what I need to do. You would think Emory could help us, but I can't even go there. Too long.


B-complex liquid
Cod oil
Vit D3 3,000
L-carnitine 500mg


My huge concern is his weight and growth. Although he grew 1 1/2 last year, he gained only 1 pound. It's hell trying to get home to gain weight and I don't understand why. I try to get high cal foods and 360 cal boosts. He is very picky and tough to get so many calories. Will note later his food intake. I'm out at the moment.

Last Edited by PENG on 02/08/2013 02:17 PM
"May the road rise up to meet you.... May the wind be always at your back..."
SE

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02/08/2013 05:42 PM
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Re: Anyone know anything about Biochemical Genetics and Organic Acids?
While we wait for you to provide results...

Did a doctor recommend supplementing L-Carnitine??

Since a normal body should manufacture Carnitine from lysine and methionine you should try a more broad amino acid supplementation instead and drop the 500 mg L-carnitine (unless carnitine supplementation is doctor prescribed)

I would suggest something like an "Amino Acid 2222"
But you can talk to your local health food / nutrition store to determine what is available for you in broad L branched chain amino acids.

then be sure you do not over-supplement.
Most 'recommended doses' on supplements and medications are designed for a person weighing 150 lbs.
You should adjust according to weight of the person taking them!

If you provide the basic building blocks ofbranch L chain amino acids a growing body should be able to do the rest! (convert to what they need)

The amount of supplementation (B complex and carnitine) does look like it may result in hypermetabolic activity in a "smaller child"!

Do you have any blood work thyroid serum levels ?

Last Edited by SE on 02/08/2013 05:43 PM
PENG (OP)

User ID: 1159762
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02/09/2013 10:36 AM

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Re: Anyone know anything about Biochemical Genetics and Organic Acids?
While we wait for you to provide results...

Did a doctor recommend supplementing L-Carnitine??

Since a normal body should manufacture Carnitine from lysine and methionine you should try a more broad amino acid supplementation instead and drop the 500 mg L-carnitine (unless carnitine supplementation is doctor prescribed)

I would suggest something like an "Amino Acid 2222"
But you can talk to your local health food / nutrition store to determine what is available for you in broad L branched chain amino acids.

then be sure you do not over-supplement.
Most 'recommended doses' on supplements and medications are designed for a person weighing 150 lbs.
You should adjust according to weight of the person taking them!

If you provide the basic building blocks ofbranch L chain amino acids a growing body should be able to do the rest! (convert to what they need)

The amount of supplementation (B complex and carnitine) does look like it may result in hypermetabolic activity in a "smaller child"!

Do you have any blood work thyroid serum levels ?
 Quoting: SE

[link to imageshack.us]
I hope this link works. I hate imageshack. But here are a few tests. The CBC was done when he was five... Only one done. Then a metabolic panel also at 5. So, I guess the thyroid test is outdated but it was normal. I posted those results though because from that point to now I saw a consistent trend with the carnitine and more so with the creatinine levels. Urine and plasma levels were always off. I don't understand why. Ad I swear I have asked. And I have told them I don't understand. EVERY time in broken English, I was given a drawing of the mitochondria and how it works, then a big conversation that it is in his genes, his DNA... Remember we can't change DNA. So are they telling me I can't help him??

About the carnitine supplement, one of his tests came back low and I asked the doctor should I give him a supplement, and she said, "you could". Now as I look through the results again, I feel I'm having a heart attack as one urine test says he is too high in carnitine. That was before I supplemented! Am I poisoning him? She said I could add this I could add that. Nothing concrete. I just do not know what to do.

I realize some people would say ask the doctor. I have been. These are the doctors who are supposed to be the gold in genetics across the country. The only time I actually got attention was when I realized they gave me the wrong patients test results. This is the place where they forgot to order a second urine test AND at one point they also forgot to test for other things and we had to go back and draw blood AGAIN! But Emory says Scottish Rite screwed up and Scottish rite says they never got the order. No one wants to take the blame.

So that's why I am here. I don't care about disclaimer on medical advise.... It cannot be worse than what we went through. I just NEED to understand what this means and can I do something.

What do the damn carnitine and creatinine numbers mean? Why since he was 5 do these numbers keep popping up? That and the carbon dioxide levels?

I remember the doctor saying that his blood is able to filter out those high numbers from the urine tests. She meant that it was in his urine but not yet in the blood.


His meals....
Breakfast would be maybe a waffle, nitrate free bacon for protein, small cereal such as cornflakes with strawberries and whole organic omega dha added milk.
Snack.... Peanuts, or cheezits.... Somethng like that
Lunch.... Carrots, fruit, wheat sandwich with natural peanut better and organic jelly, baked chips or the like
Snack... Muffin, or smootie with blueberries, milk, heavy cream, strawberries, little ice cream.
Dinner... Pasta or chicken, bread, broccoli, peas, or similar.
Dessert.... Natural cookies

Anything high calorie. I try boost but he hates any of it. He is very picky and doesn't clean his plate. He just picks at it. And because of all the testing, he has developed a great anxiety for food.

Last Edited by PENG on 02/09/2013 10:40 AM
"May the road rise up to meet you.... May the wind be always at your back..."

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