Urinary Amino Acids - Glutamine?

[meaniejean]

I was wondering if anyone has any experience with elevated levels of urinary glutamine. We just found out the other day that Calvin's test back in October came back abnormal. The office wasn't aware of it until this week. Now we have to go get a blood test for plasma amino acids and a couple of other metabolic blood tests. I was reading a bit about this and read that it can be a sign of an urea cycle disorder. I am really hoping that this is not the case and that it is somehow related to HFI.

Feel free to PM me if you don't want to discuss this on the board. I appreciate any help.

-Sandra

[meaniejean]

I don't know if this is of interest to anyone else, but HFI can cause too much ammonia to accumulate in the blood and tissues as a result of damage to the liver. Glutamine in the urine is one sign of hyperammonemia.

Unfortunately this probably means that Calvin sustained some liver damage as a result of the oral fructose load used for the hydrogen breath test. That makes me very sad. On the other hand, I am glad to have found this can indeed be related to HFI and so perhaps not some other metabolic issue in addition to the fructose.

Sorry to get all technical

[colormist]

Thanks for the update, Sandra. I tried to do research on glutamine and wasn't able to find any non-technical documents about it. As sad as it is that Calvin has this, I'm kind of glad that we have some type of example as to what can happen if a suspected HFI individual does the hydrogen breath test. I've been having a fit over doctors even suggesting the hydrogen breath test before ruling out HFI, but didn't have any reason as to why a child should be put through that. At least now we know what the results are if the individual has HFI.

Please keep us updated on Calvin's condition.

[meaniejean]

Thanks, Colormist.

He will be having follow-up testing next week when they check his thyroid function. I am going to have them test his liver and kidney function as well I think. They haven't tested it since last January, and certainly not since the fructose test in October.

If it turns out that this is indeed HFI and not malabsorption (doesn't really make sense that it would not be HFI at this point) I think I really need to campaign to inform doctors about the dangers of the hydrogen breath test.

On another note, I found out that my grandmother is thought to have passed away when my mom was young due to some kind of liver failure. I thought I had heard that before from my mom when I was younger, but I wasn't sure until I talked to my dad the other day.

Thanks again for all the support.
-Sandra

[charlie]

Hi Sandra,
sorry been off for a while due to new computer took a while to set up etc etc.
Have read this post with interest as Megs not been at all well since before xmas with one thing after another. She vomited for 5 hours one afternoon and still don't know if food reaction or bug as there was one going around but no one as bad as that. Anyway she still hasn't picked up and now has stinking cold after cold.
Anyway, out of interest they have finally decided to investigate her further as she can't seem to tolerate glucose either which doesn't tie in with HFI. We had blood tests and urine test done on Monday which tested plasma amino acids as well as glucose levels and organic acids I think the other one was. For Megan it does seem to have affected her kidneys more than her liver but they only seem to focus on liver function tests so will be interesting to know where this leads us, seeing paediatrician next Thurs so will let you know what was found.

Charlie

[ljs678]

Afraid I am going to get off the original topic of this thread but that posting made me wonder if other hfi children have generally poor health.

My baby has had one thing after another. Once I changed his diet in mid October 2008 he stopped vomiting all the time, and also stopped sweating. He is on a strict HFI diet.

Since then, I have been waiting for him to be well so that I could stop breastfeeding him in the night, but he has NEVER been well. As an aside, he has also never in his life slept through the night.

It isn't always the same thing; he gets bronchitis, colds and flu, ear infections, he also has reflux which is controlled by medication; but he always has some other illness as well. He is on vitamin supplements. I guess I am hoping someone will say he will grow out of it and that the vitamins take a while to work... But despite the breastfeeding and vitamins, his immune system just doesn't seem to be working.

[meaniejean]

Charlie-
I am so sorry that Megs is having such a hard time. I hope that the additional testing will shed some light on what is going on.

ljs678 & Charlie-
In response to the always being sick. Calvin, Sawyer and I are all at least mildly neutropenic. Neutrophils (a kind of white blood cell) are important in fighting infection.

Fructose ingestion in a person with HFI can cause an enlarged spleen. I found this tonight: "People with an enlarged spleen may have a low neutrophil count because the enlarged spleen traps and destroys neutrophils." from www.utoronto.ca/kids/Neutropenia.htm

When Sawyer was hospitalized for vomiting at about 4 months old (he was receiving quite a bit of fructose as a result of trying to treat his chronic constipation), his neutrophil count was very low. A few months off fructose and now his counts are only mildly low. I can't be certain it is the fructose, but it seems logical based on the explanation above.

Perhaps it just takes some time for them to recover from the fructose exposure.

[billiejh]

ljs678 - Hi, my daughter is being investigated for HFI right now. she is almost 4. She was nursed too until a year, and never slept well or through night, (she would nurse sometimes every hour in the night, even as she was almost a year. I thought I would lose my mind!) but after on the diet for serveral months the sleeping through the night slowly improved, it just may take awhile. My girl has always been sick one infection after another, never ending. As for immunity, you could ask the doctors to test her IG(immunoglobulin levels) types G, E, A, they are what make up your immune system and my daughter was diagnosed at 18 months with IGA(immunoglobulin type A antibodies) deficiency, or in her case total absence. It's worth asking for them to check. They just stumbled upon that in my daughter when they were checking for celiac disease. But the post about the neutrophils seems quite likely or possible too.

[millan]

[...if other hfi children have generally poor health.]

Apart from my health problems before being diagnosed (all due to the intake of sugar, naturally), I have been a healthy child and (in general) a healthy adult.

[Tammy]

Regina has always been a very healthy child. She seldom even picked up the common flu going around her school. She usually averaged about 1 stuffy nose cold a year.

[meaniejean]

I am so happy to hear about all you healthy people!
We are so much healthier this year than last. I think that now that our bodies are not being assaulted by fructose they are able to better fight infection. Calvin was a mess last year with staph infections on his face (according to the peds doc) and a constant sinus infection.
This year - nothing except a little bit of a cold. So great!!! We are thrilled by all of the changes in the boys (and me)!

[meaniejean]

Charlie-
Have you heard anything about the tests yet? Calvin just had his blood drawn yesterday so I am assuming we won't hear anything for a couple of weeks. I hate waiting.
-Sandra

[julienc]

Jan 30, 2009 2:50:17 GMT -5 millan said:

[...if other hfi children have generally poor health.]

Apart from my health problems before being diagnosed (all due to the intake of sugar, naturally), I have been a healthy child and (in general) a healthy adult.

Ditto.

[charlie]

Hi, no, no results yet, the NHS wheels turn slowly, due to see paed on Thurs - that is if she gets in OK as Britain has ground to a halt with snow - all 6 inches of it!! Can't get hold of dietitian either, he seems to have dissappeared.
We are still plodding on through colds and tummy ache but finally got full nights sleep again last night so hopefully light at the end of the tunnel, will have to keep her on very tight diet again to catch up some sleep.
Will keep you posted.
Charlie

[colormist]

LOL
Oh, your snow comment REALLY made me chuckle, Charlie. It's been pretty rough in the midwest with snowfall this year. When I heard that Britain was affected by a serious dumping of snow, I was expecting more. Looks like it's between 4-6 inches. They don't even plow the streets if there's less than 10cm. Right now we have about 30cm outside in the yard. I don't know why I always expect the UK to get similar snowfall. Of course, what I'm grumpy about, Fred finds to be a light dusting.

Do you normally get snowfall in winter? Is it usually just a couple centimeters? (Sorry to go off topic, but weather patterns always intrigue me.)

Keep warm!

[charlie]

Hi Colormist,
I'm sure folks won't object if we digress.
Yes Britain is totally pathetic these days, we probably had about 10cm (4inch) down here in sussex in the South East, the hills had a bit more and it wasn't too soggy so good for toboganning on the hills. The thing is it is a real rarity in the south to get that much snow so no one is prepared for it, even though we had a weeks notice that it may be coming!!!! It was exciting though cos we haven't had decent snowfall to play on for last 10 years in the South, we might get a couple of odd days but always wet snow, this did ice up a bit so lots of people pulled siccies to have a chance to play, but our rails, bus and airports couldn't cope so ground to a halt.
Sadly I had laryngitis and Megs was still getting over last bug so we only had very quick play in it.
Last year we did have freak snow in beginning of April one night but it melted by mid day. The weirdest of all was when I used to Event Horses about 12 years ago at a local big course in mid April the sky looked dodgy and just as I set off on the cross country course a blizzard started and I had to negotiate a 30 obstacle cross country course about 3'6" high in a snow storm as they didn't close the course. 5 minutes after I finished it stopped and all melted !! the photos were very bizarre, luckily I knew the course well and did most of it from memory. That's british weather for you,

Anyway, sorry to digress, back to the subject, am busy googling glutamine but not found anything helpful yet.

[ljs678]

Thanks to billiejh and to sandra for your suggestions about what might be making Hugo get all these illnesses.

I rang the pediatrician yesterday and got an appointment straight away for Hugo's exczema (another issue...) He had never been much troubled by it, just always been there in the background, but just in the last few weeks it has got really bad. Wasn't responding to cortisone cream and was really causing him a lot of discomfort.

So we have lots more creams to use... But while I was there I pushed him a bit on the question of general ill health. He said the average baby here gets 8 to 13 infections a year and that Hugo is not far enough outside that to investigate. He said to wait til the spring and see how he goes then. So we wait.

Just on the diagnosis, we are still waiting on our dna test results (taken late November). The pediatrician chased them for us 2 weeks ago and said to wait til mid Feb as they have not yet got all the results (implying that they have got some, but wouldn't say more).

Here the insurance will only pay if the dna test is positive; if it is negative we have to pay.

Then in the middle of the night it clicked that what has changed in the last few weeks is that I am trying to wean Hugo (he is now 1) and so am giving him bottles of cows milk (he has always refused formula). With his sister her exczema got much better after we cut down the milk and cheese from her diet. So I am going to follow this with Hugo too and see what happens.

Will mean he will have even fewer menu choices but it is a good thing he loves mushrooms, spinach, meat and white bread!

On the weather thing, we have several feet of snow here and everyone is very happy about it (it is a ski resort so means more tourists and more work for everyone).

[charlie]

Cutting out dairy will be so limiting for you so lets hope it isn't that. Megan seems to rely on milk sometimes by the pint for energy boosts. Have you tried goats milk it sometimes is OK for dairy sensativity. Good luck with that and keep fingers crossed.
The snow has now gone and Britain is once more depressed and dirty, but panicking about reports of further snow coming, here's hoping it was so pretty

[ljs678]

So I think we are going to have lots of fun with cutting out the milk from Hugo's diet. Last night he woke as usual about 4 or 5 times. I didn't give him cows milk, as I had been doing for the last few weeks. I gave him the breast once. I offered him safe baby cereal mixed with water, which he decidedly refused (I can totally understand this as I tried it and it tasted like watered down sawdust!). So he was awake and very annoyed for a long time.

Today I went to the pharmacy with the list of baby formula that the dietician said are safe for HFI (there are 3 available here in Switzerland). But they are all contra-indicated for cows milk protein problems (it can't be lactose as he was fine when breastfeeding). So they ordered and then delivered the one they thought would cause least problems on that front and I will try it tonight. He has always refused formula, even HFI safe ones, so we will see.

Just to show how they confound us all, tonight I topped Hugo up after his evening breastfeed with breastmilk I had frozen a while ago in the bottle. I was hoping he might sleep for a bit longer that way. He took it, was happy, went to sleep, then as soon as I put him down in his bed, did a huge vomit everywhere!

ah the joys...

I did look for goat's milk in the supermarket today, but no luck, but did get some goats cheese which we will try.

Now, here is a question, I have thought for a long time that the reason he may wake so much in the night is that one of his reflux medications works to empty the stomach more quickly than normal (so that it doesn't come back up the oesophagus), hence he gets hungry often. Also because of the reflux he tends to have more smaller meals, rather than a few large ones.

So I have been feeding him in the night partly to keep his weight up, and partly because I am worried he might go hypoglycaemic. Is this just me being silly? Or is it possible it could cause him physical harm if I let him cry for hours in the night with a view to getting him out of the habit of night waking.

I asked the pediatrician about the night waking and he said that some babies just have disturbed sleep patterns.

[charlie]

We had years of night waking, crying and pains, it used to get bad about 3 am. They eventually tested her for helicobacter pylori which was causing gastritis and two weeks treatment cleared the night pains more or less.
However she still does wake most nights around 2.30 with tummy ache and restless legs which they think is due to her blood sugar dropping and suggested giving her a milk drink to settle which does help. However if her diet is really restricted she does sleep through the night now on the odd night, she is 6 now. However she still wees alot in the night and has nappies still, it just isn't worth trying without yet. I tried the ignoring it but that never worked, her pain was and still is genuine but a milk drink does help. In Britain they have nannies formula which is goats formula, will look it up and see what is in it.

I was remembering today how Megs used to projectile vomit after food when I was weaning her, often after brocolli cubes and when they tried her on soya milk formula thinking she had lactose intolerance. Oh, the memories, and the number of times I had to collect her from nursery because of it. At least at 6 you get some warning but turning grey around the mouth is a good clue to look out for.
good luck for the next few nights.