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does anyone know anything about metabolic disorders?

(9 Posts)
silverfrog Thu 09-Oct-08 13:31:11

dd2 is undergoing some tests at the minute.

She is 20 months old, weighs 8.5kg. She has been classed as FTT since she was about 6 months old, and we ahve been seeing a paed since then.

We have had the usual suspects ruled out (cystic fibrosis, coeliac) and are now at blood/urine tests for metabolic disorders.

she had some tests back in June. I was initially told (end of July) that they had come back as normal, but then we got a letter at the end of Sept saying there was an abnormal result for one of the organic acids, and we had to re-test. this is all the info we were given at this point (we were angry that they couldn't be bothered to tell us more, but despite requesting more info, none was given)

So, she has had the repeat tests, and they have been sent off to St thomas' for analysis. i had her paed appt this morning, and have managed to beat squeeze a little more info out of him. He was extremely reluctant to tell me anything, and I had to be very forceful to get anything out of him. I am not certain that he is being straight with me.

They are apparently testing fo acyl carnitine deficiency - anyone know anything?

the raised result (had to read this upside down over his shoulder as he was not happy with sharing it) was 3-hydroxyglutaric acid. the level was at 9.1 instead of being >5.

He would not tell me what this meant, as apparently I would just panic.

Like that made me feel better hmm.

I have looked up both these terms, but seem to be going around in circles, and would appreciate any further info.

misi Thu 09-Oct-08 15:45:00

I would be happy to tell you about acetyl L-carnitine. this is the amino acid that allows fatty acids to enter the mitochrondia and without it. carnitine is one of the most imortant amino acids as without it, you don't create cellular energy and therefore in the case of young children, can't grow.
this explains better than I have here!!

I too would be unhappy explaining more about the high 3-hydroxyglutaric acid levels I am afraid too, it is difficult to explain to someone without a medical grounding without needlessly alarming them. that is not to say I think you not able to understand but at this early stage without the carnitine results, all manner of intrepretations could be made when it could be a simple thing to rectify with no problems. but if this is the route the paed is taking, it could be that there is a lack of carnitine in which case certain metabolites like 3-hydroxyglutaric acid build up to high levels and need reducing. how this is acheived is dependant on why the metabolites have increased and a lack of carnitine is one way. is FTT the only symptom? are there any other things that worry you or are apparent?

misi Thu 09-Oct-08 15:50:03

oops, a bit is missing from the first/second line above!! after ''and without it'' it should have read, the metabolic process slows down.

silverfrog Thu 09-Oct-08 17:30:56

Thanks, misi. Had read that wiki bit.

I do understand about the reluctance to explain, but I really am not the type to panic, and a lot of what I have read about over the last couple of weeks (since we found out about the raised glutaric acid levels) does not fit dd2 at all, so I have not panicked unduly wink.

From what I remember of her repeat blood test sheet, they are testing again for glutaric acid levels, and no more. What would they do specifically for a carnitine test?

FTT is the only real symptom, coupled with what the paed is dismissing as toddler diarrhoea. dd2's nappies are really not great, for weeks on end, and then firm up for a couple ofdays, then back to more liquid than solid (sorry if TMI). dd2 is gluten and dairy free, due to family intolerances.

Other than that, dd2 is well and happy. She just doesn't grow much. She was born weighing 7lb 13oz, and at 19 months weighed 18lb. She eats like a horse, but just seems to have hollow legs! She is developing just fine - hitting all milestones, and is probably fairly advanced speech wise (although her speech is quite indistinct - possible slight tongue tie we are keeping an eye on)

However, dd1 is autisitc, and anyhting amiss with mitochondrial stuff does tend to unsettle me a bit...

misi Thu 09-Oct-08 20:41:43

ok, if you are ok.
bearing in mind that there are no conclusive results in tests on this except where high 3-hydroxyglutaric acid levels were induced in rats. the result of continued high exposure to this were neurological damage ie brain damage. it also led to widespread nerve damage. but the good thing here is, is that continued high exposure always had symptoms of fits and convulsions, so I would imagine that your daughter, not having these fits and convulsions so far, little if any damage has been done or if so is not irreparable
high exposure and low levels of carnitine are like a runaway train, the longer it goes on for the faster (worse) it gets so at this age there is a good chance.

to test for acetyl L-Carnitine levels they need to do a blood test. you said in your OP that they were testing for low levels, did you mean they had done so or were going to do so? from my limited knowledge of this condition, carnitine deficiency is the most common cause but I only touched on this condition when studying the amino acids.

what I would suggest you ask your paed about is firstly, lysine treatment. supplementing with L-Lysine increases glutaric acid excretion by the kidneys which will therefore lower her blood levels and minimise damage, also I would suggest you ask for her thyroid to be tested. high 3-hydroxyglutaric acid levels and hyperthyroidism from what I remember are linked sometimes. overactive thyroid would not give a low carnitine reading, but what it does do is make the metabolism so inefficient that energy is used up by the bucketload just for the body to stand still hence the eating everything in site but not gaining weight. FTT and hyperthyroidism in small children are synonomous as if there is no spare energy after keeping the body going on its basic autonomous level then there will certainly not be enough energy to spur the growth of a young child bearing in mind a child her age can require large amounts of calories each day when she is growing.

this from the little I have seen is a possible conclusion, from what I remember high 3-hydroxyglutaric acid levels can cause all manner of nasty things which is why most docs would be hesitant to explain as the internet these days can cause havoc when you can't separate the symptoms therefore making any possibility a dead cert if you know what I mean? but the intermittent runny and firm nappy, eating and intolerances suggest to me something along the lines of thyroid with the 3-hydroxyglutaric acid as a ''side effect''.
so I would firstly look at these possibilities if the paed has not already done so, ask about the thyroid testing and ask for a TSH, T4, T3 (or rT3), Tft4 and a TRH or perferably just ask for a full thyroid panel.
hope that is of help and doesn't worry you, as the symptoms of chronic long term exposure to high 3-hydroxyglutaric acid do not seem to be present from what you have said so far, and for the lysine, please do not self medicate (well, you know what I mean!!) talk to your paed first. if you need info it is on the web I think or ask and I will try to locate it for you.

silverfrog Thu 09-Oct-08 21:05:37

that's really great, misi, thanks. I am not worried at all - it's just a mystery to get to the bottom of. dd2 is not presenting with any immediate worrying symptoms, so we follow the obvious testing routes and see what will come of it smile

right, to take your points in turn:

"to test for acetyl L-Carnitine levels they need to do a blood test. you said in your OP that they were testing for low levels, did you mean they had done so or were going to do so?"

they have done a blood test, but this is where i suspect the paed of not being straight with me. the bloodwork forms were sent ot me, andthe only request was for a check on glutaric acid levels (from what I understand, the levels were frst noticed to be wrong from her urine sample, and now they want to check the levels in her plasma). Form what you are saying (if I understand correctly), there would be a separate test for the carnitine levels. to the best of my knowledge this is not being carried out at present - the paed threw in the acyl carnitine deficiency today when I pressed him, but does not appear to have asked for her carnitine levels to be checked?

"FTT and hyperthyroidism in small children are synonomous"

no-one has mentioned hyperthyroidism at all. I will ask them to check that out, thnks. would this usually go hand in hand with nappy issues? we have not checked dd2's intoleances as such, but with a strong family history (and implications with her sister's autism) she is casein and gluten free, and will remain so for a good while yet. the onnly thing I can say with any certainty she reacts to is melon - that really upset her tummy when she was a bit younger. other than that, there doesn't seem to be any one thing that sets her off. I have seen some pretty foul nappies in my time, as dd1 has gut issues, and dd2's are Not Good, imo.

The paed today does not want to see her again for 6 months (unless current test results come back with something wrong), and said pretty much that this was his last line of enquiry. I will ask about the thyroid stuff.

misi Thu 09-Oct-08 21:22:31

if the paed is not interested then go back to the GP and see if you can get the tests done there or ask to be referred to an endo clinic although this will take time too. I am not averse to calling the consultant at the hospital. if you can't get through then talk to the secretary and ask for a message to be passed on, if thats unsuccessful write in. intolerances are common in over or under active thyroid conditions and disgusting nappies can be common as the guts work overtime and therefore cannot digest everything in time so some pretty foul stuff comes out the other end. the intolerances build over time as undigested food can start to pass through the absorption pathways into the blood and cause immune reactions but that comes with time and your daughter is not really old enough I think for this to be a big problem yet.

the carnitine would be a simple amino acid test, cannot remember though if it would be a plasma, serum or red blood cell test.

A test I appear to have a reference to is a NeoGram Amino Acids and Acylcarnitines Tandem Mass Spectrometry blood test, whether that is available here I do not know but there are older types of blood tests to test for amino acid levels.

silverfrog Thu 09-Oct-08 21:26:40

thanks again. I'm ff to the gp's tomorrow for a private referral - we have BUPA, so will see who we can get to see.

the stuff about digestion etc is very interesting - will investigate more

misi Tue 14-Oct-08 21:40:35

how did you get on?

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