Does this sound like HFI or fructose 1 6 bisphosphatase

[flyingscot]

Hi Guys, I suspect I have either HFI or fructose 1 6 bisphosphatase and am currently trying to get a diagnoses.  

A have a few questions that I need answered...

Did anyone get their fasting blood glucose levels checked when they were trying to get diagnosed? If yes, did the test come back saying you were low all of the time or was it inconclusive? I think the test is called A1C and it measures your blood glucose levels over the three previous months. I have just had mine checked and the doctor said my results were satisfactory although she want's to discuss them with me.... I have had liver and kidney function tests as well as being checked for all the other common things, celiac, blood count etc, everything came back normal. 

Do you have metabolic acidosis after eating fructose? I have really bad muscle pain all over my body after ingesting fructose and my urine seems to be fizzy (like i'm peeing out acid). I also have horrendous brain fog that stops me from functioning properly and all my joints crack. I play a lot of sports but regularly suffer from pulled muscles etc. It feels like my whole body is inflamed. If I don't eat any fructose the symptoms go away after a couple of days. 

Do you suffer from digestion problems like constipation, flatulence? I have a lot of bloating and fating after eating fructose.

Do you get really dry skin and lips? When i'm not well I get really dry skin on my hands and my lips get horribly dry.

Do you have ketosis? Like I said before, I do like to keep fit and play sports but I have very low body fat and I am very vascular and toned, I'm not sure this is a symptom of HFI but it is of fructose 1 6 bisphosphatase.   

Did you get your urine checked, if yes what did they check for? 

How did you actually get a diagnosis? What made the doctor think you have a problem with fructose?

Since going completely fructose free about 2 months a go I have felt a hundred times better but I have slipped up a number of times and all the symptoms come rushing back. I just want to get diagnosed as there are a few people in my family who show the same signs and symptoms as me. 

Thanks

[tummyache]

I get a "flat-line curve" every time I have had Glucose Tolerance Tests; researchers told me my blood cells die when they come in contact with a fructose medium in the lab; I have had some fainting or hypoglycemic episodes from injections which contain sugars and/or polysaccharides; generally have hypo episodes upon fasting, if tired, or under stress; used to have frequent projectile vomiting + diarrhea episodes until I changed my diet to greatly reduce fructose [plus went 100% dairy + gluten free]; had Carpel Tunnel Syndrome surgery on both hands prior to changing diet; placed on mega-doses of vitamins + minerals when FI first discovered in 1970's ; if I ingest even a minute amount of sugar, my oral tissues become sore, throat becomes raw and I tend to loose my voice; my blood work tends to be off slightly at times [but I am good at staying on the diet!]

[flyingscot]

Thanks for the feedback tummyache. Can you explain what a flat line curve means?

[ukbill]

OK flyingscot lets see if we can help.

1st we need to know a little more about how you feel after eating Fructose containing foods?

Have you had a blood sugar test after eating quite a lot of Fructose containing foods, if so was it normal or low?

Fructose is not good for anybody really so many many side effects can be caused by it.

FM Fructose Malabsorption can cause the gut problems you describe but so can Fructosemia / HFI and the resulting poor digestion of foods can cause the other issues you describe, well some of them.

I am HFI /Fructosemia (its the same thing only the medical profession take Fructosemia far more seriously than HFI for some reason). I get "frothy" pee after I have had a little too much Fructose for certain but cannot describe it as "fizzy".

The reason for the 1st 2 questions are that yes we get a lot of pain after eating enough Fructose to give a reaction and usually a resulting "Brain fog " for a day or so. I would not describe my pain as muscle pain however just typical poisoning type pain.. all over every cell in my body wants to vomit, along with typical shock type symptoms Freezing Cold, hypoglycemia, Vomiting, total mental confusion and when given 10x the correct dose (150g via IV instead of 15g) when having a "Challenge test", which is highly dangerous in any event for an HFI / Fructosemia person, the Doctors put me in a coma for a short time.

Cracking joints is not a symptom I have heard before from anyone with our condition (but no one has identical problems. We are not sure which are related to the condition or just natural to the individual)

So far as I know all the Doctors check for in the UK is Protein and sugar in urine. I never show any Sugar but do always show a little protein.

Many of the symptoms you tell us of are similar to our condition but then many also fall under FM s well (which we are often confused with)

So let us know a little bit more about how you feel and how much Fructose you eat before feeling ill please.

It also helps sometimes if we know which country you reside in, because foods / medical practices are different in various parts of the world.

Regards

Bill A.

[tummyache]

They said that the glucose test started out low, barely raised any, and stayed low...practically a "flat-line". [This is an OGTT the peak of which has been defined variously as less than 40 mg, 25 mg, or 20 mg/100 ml above the FBG value. The most commonly used definition is 25 mg/100 ml (1.38 mmol/L).]

Here's 2 articles I found that might be of interest to someone:

A Screening Method for Liver Glycogen Diseases - NCBI
[PDF] www.ncbi.nlm.nih.gov/.../archdisch01...
National Center for Biotechnology Information
by J Fernandes - ‎1969 - ‎Cited by 53 - ‎Related articles
children in whom liver glycogen disease is suspected. Various screening .... were given an oral glucose tolerance test and a glucagon .... (i) a flat glucose curve indicative of debranching enzyme .... tolerance in glycogen storage disease.

Hepatic phosphorylase deficiency - NCBI - National Institutes of Health
www.ncbi.nlm.nih.gov/.../PMC16486...
National Center for Biotechnology Information
by J Fernandes - ‎1974 - ‎Cited by 58 - ‎Related articles
Two brothers with glycogen storage disease of the liver are reported. ... an overnight fast or postprandially; the ensuing glucose curves were flat or almost flat. ... a phosphorylase deficiency on the basis of hexose and glucagon tolerance tests.

[colormist]

Hi Flyingscot,
Like the others have hinted at, your symptoms don't sound like HFI/Fructosemia. That doesn't mean that you don't have it, but your symptoms don't sound familiar to us. You might have a similar condition like a glycogen disease--or even a couple of different genetic conditions that are making it harder to pinpoint what you have.

My sugar levels pre-diagnosis (when I was still consuming trace amounts of sugar) were all within normal ranges (doctor's words, not mine). I even had them tested while I was having hypoglycemic shakes and they came back as normal. Who knows what's going on there! I didn't feel healthy or normal, but my bloodwork said otherwise.

Not sure about the pee issues as I sit down and don't tend to look. However, people with HFI tend to have sweet-smelling urine. My husband still complains even though I'm 99.99% fructose free.

Digestion problems: yes, all of those. We don't get a lot of fiber.

My skin is always dry. I never associated it with HFI though. I do drink a lot of fluids and am thirsty a LOT. HFIers drink more fluids when we've consumed fructose as our bodies need to flush out that sugar in our livers somehow.

I received my diagnosis after being prompted by a coworker. She kept calling me weird for devouring pixy stix but not being able to eat sweets. I started googling, came across HFI, discovered everyone with HFI was obsessed with pixy stix, went to my doctor, told her I think I have HFI and asked for a formal referral to geneticist for testing, got my referral, geneticist told me in our first meeting "you would have died as a baby if you had HFI, so you don't have it, but I'll humor you anyway", and our second meeting "well, you were right and I was wrong, sorry". I think a lot of us on here have found our diagnosis online before the doctors have discovered what is causing the complication.

That being said, it doesn't sound like your condition is exactly HFI, but I would recommend getting tested for HFI before proceeding with other test. I would say that you don't have Fructose Malabsorption either, as that one is more similar to IBS. Your symptoms say otherwise.

Good luck and let us know if there's anything we can help you with!

[flyingscot]

After doing some more research it now looking likely that I have a hereditary condition called G6PD Deficiency. The main symptom of that is neonatal jaundice for more than a week. I had this for 3 weeks when I was born and at the time the doctors couldn't explain it. Eventually it went away but from what I have read it's a good indicator of G6PD. G6PD effects your red blood cells causing them to die too quickly when exposed to a trigger (mainly legumes, certain medication, menthol, gluten free products, Sulphites, asorbic acid) The more triggers you are exposed to the more the red blood cells die which then causes something called hemolytic crisis, this makes you very ill and sometimes severe enough that you need to have a blood transfusion.


I am waiting on an appointment to see an endocrinologist so hopefully he will be able to run some tests and diagnose me properly. I've felt a million times better since cutting out the triggers for g6pd.

[colormist]

EEE! That sounds scary. I am glad you feel better on the G6PD diet and that you seem to have found the cause of your symptoms. Please check back and let us know how your endocrinologist meeting goes.

[antonia]

Hi flyingscot. Is the main symptom of G6PD Deficiency anemia then?

Your post caught my eye because my daughter was jaundice at birth and we don't have a diagnosis for her yet. However, she has never suffered from anemia. She does suffer from hypoglycemia and generates extremely large quantities of ketones when she goes hypo. That is all we really know from a medical standpoint. Just curious as you said you felt better when you stopped eating fructose. Why do you think that is? Did some of those fructose containing foods contain G6PD triggers?

I'm glad you're feeling better and hope you get your diagnosis soon.

[tummyache]

Antonia, I have been thinking about this message in the back of my mind and it kept bugging me about the "ketones + hypo" together knowing I had read it somewhere. Just ran across it - [although I know Wikipedia isn't always the absolute perfect info place]...

From Wikipedia, the free encyclopedia:
Glycogen storage disease type 0 is a disease characterized by a deficiency in the glycogen synthase enzyme (GYS). Although glycogen synthase deficiency does not result in storage of extra glycogen in the liver, it is often classified with the Glycogen storage diseases because it is another defect of glycogen storage and can cause similar problems. There are two isoforms (types) of glycogen synthase enzyme; GYS1 in liver and GSY2 in muscles. Mutations in the liver isoform (GYS2), causes fasting hypoglycemia, high blood ketones increased free fatty acids and low levels of alanine and lactate. Conversely, feeding in these patients results in hyperglycemia and hyperlactatemia. There are two versions: the muscle version involves GYS1 and the liver version involves GYS2

This may or may not have anything to do with your problem mentioned. However, Glycogen Storage Diseases look like a good place to look if you haven't already done so. There are quite a few types that have to do with the liver and are related to the same digestive pathway as HFI.

[antonia]

Thank you tummyache. I'll have to put my thinking cap on and look further into this.

The way it was explained to us by our geneticist is that ketone production is normal when the body runs out of its sugar stores. It's an alternate form of energy for the body to use during fasting and can occur in normal people when dieting (esp low carb diets), during intense exercise and illness. But in my daughter's case she produces far more ketones than the average person during those times, like 8-10 times as much. Interesting the bit about low levels of alanine and lactate. That may fit her labs as well, I do remember him telling me her protein levels were low, lactate normal, and he said these two things should be high if she had HFI or FBPase Deficiency. Conversely she has never shown hyperglycemia or hyperlactatatemia (I assume this means high lactate levels) when healthy. Worth discussing with our geneticist, however, so I thank you for bringing it to my attention.

[ukbill]

Question?

How are these "high Ketones'" displayed?

Is it by wee that smells very much like the flavours of the food recently eaten?

Sorry to be perhaps indelicate about this.

But when I overdo the "allowable" fructose containing foods my wee is very frothy and smells a lot of the foods I have eaten.. But not of veg at all its always the strong "B" vitamin type / meat or sometimes spice, that comes through.

So If I go mad eating the brown residue from a roast joint on bread or toast (food from the gods!) the smell of the roast meat comes through very clearly.

If I take strong B vitamin Supplements I get the same effect. The taste of the supplement comes out as a strong smell in my wee.

Now I have absolutely no idea if this is "normal" or not.. its not something us men discuss much amongst ourselves or with others.. for some strange reason.

Any suggestions?

[antonia]

Ha-ha, any such delicacy I may have had regarding bodily functions has gone out the window with mommy hood.  Especially when you have a child with health issues such as mine.

The ketones I knew nothing about until the hypo was discovered during a trip to the ER for stomach pain and vomiting. So ketones were reportedly present after additional blood and urine tests were performed. We were told that ketone production is a good thing, if they're not produced during hypo then the brain has no energy to run on and brain damage will occur, eventually death. So I assume anyone who goes hypo for any reason produces ketones, if they don't they are in real and immediate trouble. Whether HFIers produce as many as my daughter, I don't know. But that sure would be interesting to know.

You might be able to find information on how ketoacidosis effects the urine by researching its affect on diabetics. In the diabetic section of the drug store you can buy keto sticks which are suppose to detect ketones in the urine. I've never heard of how it effects the odor or appearance of the urine myself. Ketones present chronically can cause bad breath, described as sour/fruity/acetone. Palmera did have this breath on and off as a toddler. I thought it was due to gingivitis at the time. Which I thought was odd because she really didn't have many teeth at the time and she never went to bed with a bottle or anything known to cause teeth rot in young children. Also, when Palmera was three, I took her to the dentist and they actually asked me if she was diabetic! Apparently her teeth had the same kind of stains that diabetics have, said she had the same "mouth chemistry" as a diabetic. It made no sense to me at the time, but now I have to think it was because she suffered from ketoacidosis just like diabetics do.

Anyway, I think it's quite common for certain foods or drinks to have their odorous compounds come right on through the urine. I have noticed with myself, that yes, vitamins will do it, also coffee. And asparagus causes a very strong and distinct odor almost immediately after you consume it. Never noticed it with browning from meats or starches.  Are you saying that this browning is actually a form of unsafe sugar that you react to? I have often wondered about that. Not sure I really want to know if it's in fact not safe.

With Palmera, she often had smelly urine but I can't say for sure if the cause was ketones or something else. Sometimes it smelled so bad we would take her in and get her checked for a urine infection. It always came back negative though. She didn't like the smell either. I have pictures of her on her potty chair with her upper lip smooshed up against her nose, her way of plugging her nose. We thought it humorous at the time. It was a funny face, but the cause not so funny, looking back on it now.