Onset of symptoms?

[dirios]

My 8 year old daughter was just found to have one mutation associated with HFI (but not two). She had lots of symptoms that are related to HFI as a baby but things have pretty much normalized over the past 4 years. She eats all kinds of fructose/sucrose without aversion, so that doesn't seem typical for HFI. However she does have unexplained GI issues- pain, loose stools, reflux.
The doctor doesn't think HFI is highly likely, however he advised us to keep a food diary and keep track of her reactions to fructose. My question is whether most people have immediate negative reactions (within an hour or two), whether it can be delayed, or whether there can be a cummulative effect (e.g., feel OK after one serving, then second serving sets off symptoms).
Thanks so much!!
Dianne

[charlie]

Megan can have delayed reactions up to 4 days later which made it very difficult to isolate foods. Sometimes she will have a bad day and I suddenly remember something we risked a few days before.


It may be that your daughter has fructose malabsorbtion rather than HFI where the bowel doesn't absorb the fructose properly so it sits and ferments in the large bowel, there seem to be lots of variations and severities so it may be a build up. However for a true improvement the treatment is the same ie eliminate all fructose and sucrose. They can also tolerate then certain levels of fructose if the fructose/ glucose ration is balanced and even. There is a yahoo chat group I found on it based in australia which goes into it and a dietitian called Sue Shepherd, if you do an internet search on her you should find the right pages.

I would think it highly unlikely she has HFI as symptoms would not improve as they have done. Have they done a fructose challenge test on her

[dirios]

Thanks for your response. It does make it much harder to figure out, doesn't it, if response might be delayed (or cummulative). She has had an exacerbation of GI symptoms lately, but two things have changed: her teacher gives them juice daily, and we had to switch the pills she gets for lactose intolerance. Could be either. I think I just have to take her off dairy for a while and see.
We sort of came through this HFI thing the "back way", so to speak. Her geneticist sent a sample for genetic testing when she was a year old- results negative. Never gave it another thought, and we went on our way looking for a diagnosis. Down the line, suspected mitochondrial disease was answer (though certainly not a definite answer). Then we get a phone call (this is 7 years later) that the lab in Boston retested her sample and found one mutation.
Needless to say, we are trying to make sense of it all! Could this be the answer we've been searching for all these years? Not sure. Fructose and reactions to it have honestly never been on my radar, and she's doing well. I think if we have suspicions this could be it, then perhaps fructose challenge is the next step, I don't know.
Thanks for your response!