mild HFI?

[dirios]

Does anyone have any experience with more mild forms of HFI? My daughter had issues as a baby: elevated liver enzymes, acidosis, vomiting, multiple food intolerances and GI issues, amino acids/protein in urine, prolonged blood blotting time. I guess all this sounds like it could be HFI, however only now (nearly age 9) are they saying it could be HFI. They tested her for it as a baby (negative), but apparently they kept her sample and ran a new genetic test recently which was positive (still waiting exact details).
What has me disbelieving this diagnosis is that she is doing really well! Our current doc was thinking this is more of a mitochondrial disease and has her on supplements that have helped. My daughter eats all kinds of fructose/sweets, has no aversion (in fact seems to crave them), and has had few medical issues over the past 3-4 years.
Any thoughts?? Thanks!!

[meaniejean]

Wow! Maybe the mutation your daughter has allows for a greater amount of enzyme activity, rather than a complete deficiency.

My 5 year old craves sweets, I crave chocolate and my almost three year old basically won't touch anything except milk. I don't know for sure what we have, though, so we are probably not much help. I need to have my liver biopsy repeated.

I have also read that some people's bodies are better than others at using alternative pathways to dispose of the fructose substrates. I think it gets metabolized in muscle and brain or something like that. Hey - I guess that's why it could look like mito ... hmmm ...

If you find out what the mutation names are, please let us know on here. There are quite a few of us who are atypical and/or have had negative genetic tests in the past.

Best of luck to you and your daughter!

[dirios]

Thanks for your reply! We spoke iwth the doctor and found out she has one found mutation for HFI. So either she is just a carrier or they can't find the other mutation. Her picture as a baby sounded like HFI but I can't imagine she'd be doing so well now, still being on fructose.
She does, however, sound just like the picture of FDP'ase deficiency. If anyone has any experience with this, I'd love to hear more. I've read it also has to do with fat and protien, which I've always suspected she reacts badly to. Is there overlap in the genes that cause these two disorders? I'd guess they're pretty distinct, though.
Thanks!!!

[meaniejean]

I am glad you are getting some answers and that the doctors seem to be helping you find those answers.

I was actually diagnosed with FDPase deficiency, but I don't completely trust the diagnosis. They did my liver biopsy wrong so they are basing it on some swelling of the liver cells and my symptoms I guess. I am going to have the biopsy repeated.

We also have a lot of trouble with protein, but fat is the worst! Even as we have added in more and more fruit, we have done well until our fat intake got too high. This also applies with when we fast - body starts releasing that fat and ugh ... And when we get sick we can't seem to handle much other than dextrose until the infection has passed.

We get the muscle weakness, carnitine deficiency, etc that also has at time pointed to mitochondrial, so it is interesting to hear about the possible FDPase deficiency.

If I find out more, I will let you know.

Best of luck,
Sandra

[evelyn]

Hi dirios,
I don't know if I have HFI or FM but, when I was younger, it "appeared" that I didn't have any reaction as well. I would feel sick from it though but, I just thought everyone did so I didn't complain. I wanted to eat what everyone else was eating because it "looked good" and I would think "this time it will be better" but it always gave me the same reaction and finally when I was a bit older but, still a kid, I just stopped eating the stuff like apples, bananas, we never really had any other fruit around besides oranges once in a while. I never ever liked pop but, I appeared to because I didn't know any different so I would drink it and then feel sick. I would, as well, crave sugar and I think that is because the fructose causes hypoglycemia but then you treat it with dextrose and more fructose in the sugar so you just keep feeling gross and this just becomes your normal and you always are very different than everyone else but you appear to be the same. For instance, I was thin and looked healthy but I was the last one behind everyone else in gym class all my life during runs etc.. always, but I tried so hard to keep up just to "appear" normal. I would hide feeling sick at school basically the whole time I was in school to appear normal and I didn't know the difference. I never said a word to my parents about it because I didn't know there was anything wrong, this was my normal. I had rosy cheeks and would smile a lot, for the most part I could keep up with everyone else but when endurance was really tested eg: running etc..I was always last and would push my self to dangerous levels in gym to appear normal. I hated gym class. If you didn't have asthma the teacher thought you were lazy and they would push you harder. Anyone else have this experience in gym class?

So I think it can be hard to see sometimes just because as a kid you don't know the difference, but keep in mind I don't know which form I have.

Good luck, Evelyn

[dirios]

Hi Sandra,
Thanks for your reply. All of what you describe sounds a lot like my daughter! We have always intuitively tried to keep her fat and protein intake low. I've always attributed her doing well (since the age of 2 or so) to that. And, yes, fasting has always been a big issue. That's when she gets acidotic and we end up in the ER for a dextrose IV. She also has what you describe- muscle weakness, fatigue.
So, from what I read the only way to diagnose FDP'ase is biopsy? I'm sorry they messed yours up- that must be frustrating. What about your children- are they suspected FDPase as well?
It is very interesting the overlap of symptoms with mitochondrial disease. Have you ever had CoQ10 levels checked? My daughters, and mine, are low.
Thanks!

[dirios]

Hi Evelyn,
Thanks for your reply. It is interesting to hear your childhood memories, though a shame that you so vividly remember how hard gym class was. That's tough for a kid. My daughter also has fatigue/strength issues and really is affected by the fact that she's not as fast as other kids.
I hear what you say, though, about kids really not knowing any better. I was just thinking that the other day. It seems like my daughter may have tummy issues often, but it's only when it reaches a certain threshold that she complains. I can imagine that if you've been feeling a certain way your whole life you don't know that you should feel better!
Thanks, Evelyn!

[meaniejean]

Dirios,

The kids are not suspected (by any docs, at least) of having FDPase. What I do know at this point is we can't handle fat, we can't handle fasting and there seems to be something going on with uric acid. I have no idea what all of this is. But, the kids are doing pretty well right now. Of course, once all of the bugs start floating around this fall, things will likely change.

I may have already said this, but Calvin is on colchicine (which is a gout medication) and it seems to be helping a lot with his pains. He is suspected of having familial mediterranean fever, but at this point I am thinking it is something more related to uric acid metabolism.

I don't think we had the CoQ10 checked. I have just about given up at this point. I have an appointment with a new primary physician next week and I'm hoping she'll get me organized and diagnosed!

Good luck and keep us updated!
-Sandra