Please help, in ER, what do we test for?

[antonia]

We are in the ER for low blood sugar. My daughter had suspected stomach bug Tue morning. Was able to keep her eating and blood sugar up until this morning.

So, while we are here what can we have her tested for? She has not had any fructose. Will we see elevated liver enzymes when she's hypoglycemic due to illness and not fructose ingestion? Are there any other test we can have run that would be indicative of HFI or FBPase deficiency?

[rysmom14]

Hi antonia, Sorry to hear that your daughter was in the hospital!I'm sure you are home by now. With Christmas, im sure activity on this board was slow. are you still trying to confirm that she is HFI? I know I was able to get a lot of answers after my son was an inpatient. they checked his liver enzymes and sicne it was odd to have the numbers so out of wack, genetics got involved. his reason for becoming an inpatient was extremly swollen belly with acities ( spelling?) and because of this I think they moved a little faster than they might with low blood sugar, but never the less, thats how we were able to get answers quickly.

If she is home now, did they recommend she follow up with any specialists? They should be concerened why a child isnt able to sustain normal blood sugars, even if they are sick. maybe that can be a good avenue for testing? use thay specialist to help muddle through and get you in touch with a geneticist...

Rysmom

[antonia]

Yes, we are trying to rule in, or rule out, HFI (also FBPase Deficiency, but even less is known about it than HFI, so tend to concentrate on HFI first). Going hypo upon illness is nothing new for us, but only realized that hypoglycemia was occurring last year in April when stomach pain and vomiting after a respiratory virus sent us to ER. A blood sample was taken at that time and we were admitted for hypoglycemia. But no metabolic testing was done until a day and a half after treatment. At that time liver enzymes were only slightly elevated, docs considered that insignificant. They blamed the hypo on the virus. About two weeks later we landed in the ER for hypo again but this time she was not ill. But liver enzymes were not tested at all that time. So frustrating because I believe fructose alone caused her hypo that time (she became symptomatic after eating a high fructose meal with no glucose based carbs to combat the hypo).

This last trip to ER yielded similar results, slightly elevated liver enzymes. She is totally fructose free now, so I guess that should be expected?

The only other abnormalities ever found are sugar in urine and an abnormal ultrasound showing thickening or inflammation of bladder wall and an enlarged duct from kidney to bladder. Docs always blame these "not normal but not significant" findings on viruses. I was just wondering if there was anything besides liver enzymes that would be an indicator of HFI, but it seems findings (especially children) that lead to diagnosis are very individual. In your case fluid in the belly, others acidosis of blood and respiratory issues, enlarged liver, etc....... none of these have been found in my daughter.

We did get a couple things out of this recent ER trip, a referral to see an endocrinologist and authorization to see a different biochem doc (the one we were seeing before was most unhelpful). So we hope a new doc will result in a better experience. Hope this doc will be more investigative and a better listener, someone who will try and put pieces of the puzzle together.

[antonia]

Should also mention she always also tests high in ketones but the doctor told us this goes hand in hand with hypoglycemia and is a good thing. Ketone production is the way the body creates its own glucose when it can't get it from the diet. So the question I'm left asking is why is my daughter going hypo and producing ketones when she's getting plenty of glucose from her diet? Even when sick with a virus she is still eating enough that she should not be going hypo. But always the doctors come back to the virus as the cause.

[christopher]

Hi antonia!

In my understanding, production of ketones is not the body producing glucose, but rather the body breaking down fat stores to produce ketones (there are different types) which the body is able to use as an alternative fuel source to glucose. Unfortunately not many doctors are knowledgable of this alternative human metabolic state. Most confuse it the the very serious state diabetic ketoacidosis, which is something entirely different! There is a lot of info about the ketogenic diet online, which induces a chronic benign state of ketosis. Being able to run on fat and ketones lessens the need for glucose dramatically. There are papers stating that a lot of our different organs and tissue actually prefer using/buring ketones to glucose, especially the heart but also the brain - the brain does still need some glucose though, but a lot less than normal. 

I am new here and I suspect I have FBPase deficiency. Please take a look at my post in the adult section (Link here). I am sorry for the weird and inappropriate question, but as I believe it might be of help I would like to ask if your daughter has ever noticed her stool smelling very fruity - almost sickeningly sweet. I only ask because I have noticed this myself, and if my suspicions are correct I believe it to be a key feature of FBPase. You see, as per my understanding, FBPase is needed to absorb fructose from the intestines. A deficiency of it would then logically cause fructose to remain unabsorbed and passed out in the stool. 

In my case I believe it also explains why my symptoms are so hard to figure out. This is also speculation on my part: Foods (regardless of what) that are high in fructose but low in other sugars and cognate sugars are actually tolerated quite well as the fructose is almost not absorbed by the body. If you add glucose (in whatever form) to the mix - increasing the ratio between glucose:fructose in the meal, will increase absorption of fructose and cause a lot more symptoms. But - because glucose is ingested at the same time, the glucose might mask the symptoms also. This is why I believe I get the most symptomatic when I have eaten the largest meals, including lots of starches and sugars. The reason being that I believe such a large intake of food would cause a large secretion of insulin as well - and as you probably know - insulin´s job is to remove glucose from the blood. But because FBPase is deficient, gluconeogenesis and glycolysis is impaired, as such the body(liver) is unable to release more glucose into the bloodstream. So, while a huge amount of insulin has been released to avoid hyperglycemia, by shunting the glucose out of the bloodstream, glucose is going out of the blood, but not enough is coming in. 

For example, in my case my worst experiences of what I believe to be hypoglycemia has occurred three times in the past, now a few years ago:
1) After a very large meal in a middle eastern restaurant with my girlfriend, which contained a lot of different foods, a lot of veg, breads, a lot of wine and a very sweet cake for dessert. After finishing we went to see a movie during which I started feeling terrible, flushing, sweating, feeling both hot and cold. I thought I perhaps was having a stroke or a seizure or something and became quite afraid. I left my seat and went to lie down on the floor out of view. I don´t quite remember what happened after I returned to my seat (this was 8 years ago), but I believe we left in the middle (or just after the start really) of the film to go outside for some fresh air. 

2) After a large meal of what I believe was lasagna, bread, and a salad on the side, red wine, and was topped off with a fruit salad. Upon walking into the kitchen after the meal I fainted, but was luckily caught and supported by my girlfriend back to the couch. 

3) After our christmas meal a few years back. This time I believe there were berries in the dessert. I also had alcohol during and after the meal, but not to excess. Later we attended christmas mass at a local church. We we´re all standing for a song when I became symptomatic; pretty much same as 1) pallor, sweaty, flushing, hot/cold at the same time, nauseous and light headed. Safe to say I felt terrible, and it was apparent to those around me. My stepdad standing beside me took notice and told me to take a seat. So there I was, the only 25yo sitting during the song - along with those too old to stand for the duration of a song. 

That´s some of my story at least. 

One last thing - during my last two episodes of what I suspect to be hypoglycemia I have noticed an unpleasant smell in my nostrils - kind of like acetone/nail polish remover, or something like burning plastic. I believe this to be symptomatic of the ketones being produced due to the hypoglycemia - this one study made the following conclusion, among others: "Breath acetone is as good a predictor of ketosis as is urinary acetoacetate. (...)" After my last hypo I happened to have urine dipsticks for testing acetoacetate, and sure enough it registered at the highest levels.

Sorry for making such a long post, but I hope you will find some of this information useful. Also, please take a look at my post I mentioned above - you might find other symptoms of interest there. 

[rysmom14]

Hi Antonia,

Im not as knowledgeable with the ketones/ hypoglycemia, but I know that my son's geneticist was very worried about the possibility of him having low blood sugar to the point of ketone production. From what I understand, it is survival mode and the constant production of ketones is not good for your overall health and growth. especially your organs. ketone production happens when you run through the regular sugar stores and in a condition like HFI, you would start with such minimal stores, so that is why hypoglycemia is a concern. It is kind of a double edged sword. when you dip below your body's stores, your body makes the ketones to keep your body functioning, but to many and you have problems.

as far as a virus being the go to problem, my son was sent home from inpatient care with no diagnosis and with no other leads as to why he got so sick. The only outstanding test we had was the genetic panel, so while we waiting for it to come back my son ate regular food. Fruit, veggies, ice cream, and only ever had very minimal symptoms ( random throwing up and seemed delayed for growth and development from his twin sister). the only saving grace was that while he was in the hospital they switched is formula to one that they commonly give to liver patients. By luck it happened to have no sugar. No one knew that this alone was what "saved" him. Since he was still mostly formula at that time, the small amounts of real foods with sugar only had small negative effects.

The Dr's were going to put this into the " caused by a virus" category since his outpatient follow up appointments all showed him improving. The dr's were very honest and said that by saying it was a virus was more of a catch all category. It was a easy way for us to explain it to others since people understand what a virus is, but it more or less meant that it was completely unexplained. after his HFI diagnosis came back more of the pieces came together and more made sense, but without the genetic test, it would have been a long road.

[antonia]

Thank you for sharing that rysmom. I just found out last week that my daughter's ultrasound also showed free fluid in her abdomen. But not very much so was never mentioned to me, "could have been caused by anything", they said. Seems to me all these "little things" must add up to SOMETHING. So thank for sharing your experience. It strengthens my resolve to find answers and not feel apologetic for it.

[antonia]

Christoper, I can't say that my daughter's stools ever smelled "sweet" to me. But I have heard from at least one other mom with a confirmed HFIer that her son's stool did. I do remember Palmera having really smelly diapers in the morning sometimes (urine only) and although I don't recall ever calling it sweet, it was just really bad and unpleasant. Really pungent like when you eat asparagus, but different. We used to always get her tested for urinary tract infections because of that smell, but they would come up negative. I've also heard at least twice from docs that her urine contained sugar. Other than that she has always drank a lot of water and her urine is pretty dilute all the time.

I have never heard before that FBPase Deficiency causes fructose malabsorption. That's very interesting. Most of what I've heard about differences between HFI and FBPase Deficiency is that HFIers often have a natural aversion to sweets while FBPasers do not. Also, FBPase is needed to convert energy stores, so FBPase Def is worse in times of illness or periods of fasting and will act like HFI. When not ill, those with FBPase Deficiency are suppose to be able to tolerate larger quantities of fructose than HFIers. I don't fully understand the role of FBPase in the conversion of energy stores. I wish I knew more.

Palmera's main symptoms are nausea, stomach pain and pale/grey skin tone. These are her symptoms when she is hypoglycemic. When blood sugar gets really low she will vomit. She also had very poor sleep before going on the HFI diet. It's hard for me to say much beyond that as far as how she is feeling because she's only five. Communication is limited. The HFI diet made a huge difference in resolving her symptoms, although we still battle hypo during illness and she cannot fast for very long without going hypo either. Everyone has slightly different symptoms when going hypo though. You could get yourself a glucose meter and start tracking your blood glucose before and after meals, mornings and before bed. Determine where your baseline blood sugars are and when you have symptoms if blood sugar is low or not.

I hope you find answers soon. It can be a long journey. It certainly has been for us. I have entertained the idea that she may have more than one condition going on. It gets pretty muddy though when I go there.

[antonia]

Christopher, I don't know if you've seen this, but I found it interesting because it mentions some of the labs that might be indicators of FBPase Deficiency. I don't know anything about them as testing lab though.

www.preventiongenetics.com/clinical-dna-testing/test/fructose16bisphosphatase-deficiency-via-the-fbp1-gene/205/

[lucky]

Christopher,

Sorry if it was referenced before, but can you please explain or direct me to info that may suggest that FBPase deficiency causes fructose malabsorption? That would be very interesting to me.

Many thanks,
Lucky

[lucky]

Christopher,

Not sure this is helpful, but here's a link to a previous thread on FBPase deficiency testing.

FBPase deficiency testing:
hfiinfo.proboards.com/thread/1209/fbpase-deficiency-testing

[rysmom14]

Antonia,

the day my son was admitted to the hospital he was sent to get an ultrasound of his belly from his PCP. I knew something was wrong and refused to leave unless the checked his belly because it was extremely distended. After the scan I hadn’t even driven home yet and they were calling saying I needed to take him to the hospital because he had “fluid in his abdomen”

After truly understanding that they were talking about ascites I was floored. The reason it was their was because his liver was in distress and his liver panel numbers were all over the place, especially his albumin levels. Having normal albumin levels helps keep “fluid”, for lack of a better term, in your vessels. When the levels are off the fluid spills out of the vessels and floats in your abdominal cavity.

My son had a distended belly for months and it just seemed to gradually get worse. He never seemed upset about it and so the doctors didn’t do anything. They had always felt it ans since it was soft they said he was fine. Finally I put my foot down because he was crying nonstop for 1/12 days, his stomach was hard and he look sick.

My thoughts were that he had this free floating fluid for months, but it wasn’t enough to do anything. I’m sure there are reasons that can explain a small amount of fluid in your abdomen, but with the other problems that your daughter is having, I would think this should put them on alert.

On a side note: There are conditions such as extreme heart failure that ascites is common and there is no way to completely get rid of the fluid, but it is just manage so that the levels are low and are being monitored for infection. That being said, the typical patient for that scenario would be an elderly patient who had been dealing with heart failure for many years. Other people who commonly would have ascities would be people with hepatitis.

[antonia]

Thank you again for that info. My daughter has always had a bloated looking belly. It still is extended but not as much as it used to be. Whenever docs feel her belly they always make the same comment, feels nice and soft. And when I've asked about it, just told some kids have bellies like that.

We are seeing a urologist soon about the ultra sound. Will be interesting to see what he has to say. I just don't have much hope, to be honest, because the problem with seeing all these different specialists for the various abnormalities is that none of them look at the whole picture. I'm sure he's never heard of HFI. Honestly, I get jealous when I hear others saying their doctors show concern for this or that because so far none of ours have really shown much at all. Everything we've done so far has been entirely on our own. And that's very scary. I don't want to play doctor anymore, I'd like a real one to take over please!!!

To be fair though, her ultrasound did not show enlargement of the liver. I don't know that size is a definitive depiction of a healthy liver though. And she did show urinary inflammation and enlargement of kidney duct, and I know HFI can take a toll on the kidneys/urinary system as well. But no urologist is going to know that.

Thank you for the information though. I'm going to bring these things up to our geneticist when we see him (not until March). Our last geneticist did not want to listen to or take into account any of these things. Hopefully this new one will.

[rysmom14]

I hope your new dr. is more helpful than the last. It’s very frustrating to know something is wrong, but cant fix it your self.

It is good news that her liver isn’t enlarged. My son’s was and still is 5x’s the normal size for his age. I do suppose this was another major red flag on the ultrasound. I don’t know all that much about the kidneys and HFI, just that it is a possibility that they can have collateral damage. I remember that renal did consult on my son in the hospital and said they were a little inflamed and large, but nothing to raise concern. We never had to follow up with them after that hospital stay or since his diagnosis.

Hang in there and hopefully this new Dr. you are seeing in march will be more open minded.

[christopher]

Jan 22, 2016 18:21:16 GMT -5 lucky said:

Christopher,

Sorry if it was referenced before, but can you please explain or direct me to info that may suggest that FBPase deficiency causes fructose malabsorption? That would be very interesting to me.

Many thanks,
Lucky

I probably did not reference it, as I believe it was a source in my own language. But, I will try to look more into it. 

[christopher]

And by the way, I have also had an extended belly for most of my life. While doing the ketogenic diet it seems to get better though. It might have to do with the diet having a strong diuretic effect?