FDPase or FBPase Deficiency Diagnosis

[antonia]

I know this is an HFI board, but I have seen a few threads regarding FDPase or FBPase Deficiency. Wondering if anyone on this board may have it and can help me understand it better.  I have only found very technical medical articles on it and they are difficult for me to understand.  And as far as I know there is no such thing as an FDPase Discussion Board out there.

We are currently waiting on blood test results for my daughter for HFI.  But I also feel FDPase Deficiency is a possible diagnosis for her.  Especially given, in the past, she has consumed fructose containing foods that, if she had HFI, I would think would have made her sicker than they did.  And I understand those with FDPase Deficiency can tolerate larger amounts of fructose than those with HFI. 

Can anyone speak to me about it?  In particular, what kind of diagnostic tools are there to diagnose it other than a genetic blood test.  For HFI, fatty liver and elevated liver enzymes are indicators.  What kind of labs can be done or indicate one has FDPase Deficiency?

Based on symptoms alone, is there any way to distinguish between HFI and FDPase Deficiency?

Her current DNA blood test is being done through our local Children's Hospital.  They told me they would be testing the whole gene for mutations but when I asked if they could test for both HFI and FDPase Deficiency they said no.  A separate test had to be done to determine FDPase Deficiency if the HFI test comes back negative.  Although, I thought FDPase was on the same gene. Why could they not analyze for both? 

I would appreciate any knowledge you could share.
Antonia

[charlie]

I think Lucky may be able to help you here, will let her know.

[lucky]

Hi Antonia,
I am lucky. Nice to meet you...

If you click on my profile name "lucky" it will give you a history of all my previous replies on various posts (mainly in reference to FBPase deficiency). I think most of your questions may be answered in those. If not, please don't hesitate to contact me here either publicly or privately.

Best,
Lucky

[charlie]

I think this is the main thread to read, I knew Lucky would come good on it......

hfiinfo.proboards.com/thread/1592/pleased-site

[antonia]

Thank you Charlie and Lucky. I have read this thread before but I will read it again and see if I can pick up some more info this time.

Lucky, can I ask, if FBPase deficiency is related to energy retrieval why is a fructose enzyme (fructose 1,6 biphosphatase) even involved in the process? Isn't all energy storage in the form of glucose? I guess I need to study the glycolysis cycle and then maybe it will make more sense.

I feel I am about to pull my hair out trying to diagnose my daughter. I go back and forth, back and forth, my mind gets flooded with all the symptoms, her history, habits, behavior, lab results (or lack there of) and it's all just a muddy mess. She fits everything yet nothing all at once. And to make things worse she started kindergarten today and we had somewhat of a relapse this evening and now my anxiety has gone through the roof. We had an appointment with her pediatrician to get her support in a medical emergency plan for her school. I just get done telling her how great she has been doing on her HFI diet and on the way home she becomes severely nauseous. She has not done that for months and I have no idea what set it off. She's sitting here now eating white rice and says she's beginning to feel better. Stupid me, I did not think to take her blood sugar before giving her food. I was so panicked.

Only thing I can think of is that I put some spices in her turkey meat that she has not had for a while. If she's been eating really "clean" for a long time and then we go back to a spice that she used to tolerate would she not be able to tolerate it now because she's just that much more sensitive to fructose now?

[antonia]

Or maybe it was the change in activity level and eating schedule that caused this relapse? She walked a mile to school today. Then all the activity of school itself coupled with a change in her snack and meal times. Mom was not able to feed her at her request today. I've been watching her like a hawk all summer. Keeping her healthy should not be so hard though right? There's got to be something going on with her metabolism. She felt better after eating some rice. Started off eating it very slowly and as she started to feel better she kept asking for more. She ate some turkey too (not the turkey with spices). Says she feels good now. Fingers crossed.

[colormist]

Hi Antonia,
I've found Jennie Sanders' videos on YouTube really helpful in understanding how the liver processes sugars. I haven't watched all her videos, but she's pretty knowledgeable. You might be able to ask her a question about FBPase deficiency.

Here's a video about HFI: www.youtube.com/watch?v=nY8RWcdfsfU

[lucky]

Antonia,

I think you have the right instincts. It was very astute of you to make the connection between eating times and increased activity. Regardless of being FBPase deficiency or other, it shows how your daughter's system responds to being taxed.

Observations like these will be helpful to your daughter's specialists. And in the meantime, try to lessen this stress by modifying her eating and exercising routine.

I sent you a private message detailing some other info. Just sign in and you should see a notice.

Lucky

[antonia]

Well, major update, the news came in yesterday, my daughter's HFI test is negative. I know it is not diagnostic but believe it is enough to move forward with testing for FBPase Deficiency now. I can't thank you all enough for your supportive words. It's been an emotionally charged week. Starting school and all the added worry of not knowing how to control my daughter's health, how to explain it all to school staff, how to gain support from the doctors without a diagnosis, I was a pretty big mess.

Thank you, Lucky, for your message. I slept in my daughter's room Wednesday night after her "relapse" because I was afraid she would have a rough night. But the good news is she slept fine and felt fine the next day. So now I know that at least sometimes when she becomes symptomatic it is possible to correct it by getting the appropriate food in her promptly. But I can't thank you enough for your encouraging and supportive words. I lay there in the middle of night watching over my daughter and read your message several times. Your son when younger sounds very much like my daughter now. How inspiring it is to hear how well he is doing now. I will go back and read some of your older posts and see what else I can gain from them.

I have not had great support from the doctors thus far. I think because we have managed without many hospital admissions that my daughter's case has not been taken seriously. Every time we take her in they test for the same things.... UTI, constipation, appendix and then there is the ever present, "Oh, it must be a virus". I've been scolded for taking her blood sugars, even after she was admitted twice for hypoglycemia. I'm not able to get any of her doctors to run blood tests for vitamin and mineral deficiencies. Even her FM test, when she was 3, was basically ordered by me. When her results came back positive I received no feedback, other than try not to give her too much fruit. But I know in my heart of hearts that something is not right. FM alone should not be making her hypoglycemic. So I am so greatful to you all for sharing your knowledge and personal experiences. I feel so much less alone.

[lucky]

Antonia,

Sorry to hear you are still in medical limbo...

If you are still intetested:

In an effort to make reading my past posts a little easier for you, I have listed -in order (and with links)- all the past threads I've been involved in.

Should you choose to peek in and read them, this set-up should now make info (and it's retrieval) more understandable and easily accessible. Otherwise, sometimes I find it can get confusing/frustrating popping in and out of isolated and random old posts.

At least now the posts are bunched up (in order) and in actual threads with headings and links.

* I privately messaged you this new grouping of info. *
(As I just wasn't sure it would be of interest to others.)

Glad some of the past info was helpful.
Let me know if there is anything else you need.

Hang in there, honey.
Big ((hug))
You are not alone.

[antonia]

Turns out I spoke too soon. The HFI test results are only partially complete. Apparently they analyze the most common gene mutations first and that was our negative result. We still have less common gene deletions to test for. This requires approval from insurance again so we wait once again.... 

[lucky]

Antonia,

Good luck.
That's very good to hear...