Cause of HFI (Aldalose B Deficiency)

[lazerlee]

After studying dozens of research papers,
There appears to be 5 methods of acquiring HFI (Aldalose B deficiency.)

1... Virus like Hepatitis B infecting the replication Transcription Factor that prevents the creation of Aldalose B

2... Virus like Coxsackie A16 infecting the Autophagy process that cleans broken enzymes from a cell in preparation for a new one.

3... When a virus overwhelms a body to a state called Chronic Fatigue where the viruses coat cell surfaces preventing proper flow of nutrients.

4... A bacterial infection that releses toxins that cause liver damage.

5... A unique or very rare Aldalose B Gene in which the placement location info part of the Gene is bad.

[ukbill]

No only number 5 actually, a Genetic difference to people who can metabolise Fructose.

All the rest are not HFI but Fructosemia or something totally different alike in only one point, that it may cause issues with Fructose consumption.

The clue is in the "H" of HFI none of the others are Hereditary and are likely to have very different symptoms reactions etc.

FM is so very common (45%^ of the worlds population suffer from some form of FM to a lesser or greater amount) it is always being confused with HFI even by those who should know better in the Medical profession.

HFI is far from "rare" as genetic errors are concerned, it effects approximately 1:15000 children born. Unfortunately many of us do not survive weaning or if put on infant formula that contains Fructose (as almost all do) we die shortly after birth being labeled as "failure to thrive" and sent home to die.

A check has been done of the heal prick blood tests done on babies born in the UK and the the result was that 1:15000 were HFI although before that research it was expected to be only 1:25000 births.

There should be over 4,500 HFi people in the UK for example.. less than 500 have ever been identified. In the UK one HFI child is born every week and it is a national disgrace that there is no testing at birth for the condition.

In America there are 5x the number of people therefore it is reasonable to assume you have approximately 5 HFI children born each week.. and no organised help for them.

[lazerlee]

Hereditary Fructose Intolerance became a diagnosable conditions in 1956

That was 32 years before a coincidence of identifying an Alternativ Gene for Aldalose B and any form of commercial genetic testing.

The H in HFI means the disorder passes from generation to generation.


Doctors and Geneticists have different definitions for HFI...

Genetically HFI is an alternative Gene that requires an additional Glucose molecule in order to metabolize Fructose. This defect makes a person more likely to be medically diagnosed as HFI.

A medical confirmation requires a Liver biopsy (sample) or a liver function test (Fructose metabolism) to measure Aldalose B activity.

A Genetic test for an alternative gene is not a replacement for a medical procedure to evaluate Aldalose B activity. Even moreso in light of the various methods that Aldolase B can become deficiwnt.

The heal prick blood test may be a genetic test for an Alternate Gene. but is not a Medical Confirmation of an Aldalose B Deficiency... The two conditions have the same name, but are not necessarily the same.

The statistics provided are for genenetic research, not based on medical
diagnosis and medical confirmation tests.

[lazerlee]

Interesting... Fructosemia is a medical state where Fructose is found in the blood in which the Fructose has not been metabolized, Hereditary Fructose Intolerance is most often cited as a posible cause of the condition... Gotta love UKbill.

[lazerlee]

Question:

If HFI (Aldalose B Deficiency) is strictly a genetic condition... Then why do your genetic statistics dramatically excede your identified people?

ukbill

"There should be over 4,500 HFi people in the UK for example.. less than 500 have ever been identified. In the UK one HFI child is born every week and it is a national disgrace that there is no testing at birth for the condition."

(A strictly genetic disorder that cannot be identified with a genetic test at birth, even with mass testing of children born in public medical facilities...?)

[lazerlee]

There is an additional method to acquire HFI (Aldalose B Deficiency)

6.. A protozoa [Trypanosoma brucei] emits a chemical [hydroxynaphthaldehyde phosphate] that permanently damages the Aldolase B Enzyme. The protozoa is the source/cause of African sleeping sickness Disease.


pubmed.ncbi.nlm.nih.gov/16509566/

Correction, it permanently damages the Fructose 1,6 phosphatase immediately after the Aldolase B... The effect is a build-up of Fructose-phosphate in liver cells and the blood..... Often confused with Aldalose B Deficiency (inability, limited ability of liver cells to metabolize Fructose to Fructose 1,6 phosphate.)

[lazerlee]

Question for medical professionals:

Does a liver function test (or Liver biopsy analysis) assess the various steps involved with metabolizing Fructose (I.e. Fructose to Fructose-phosphate to Fructose-Biohosphate.)?

[lazerlee]

From what I have been studying about a Liver Function test, Medical Doctors are unable to distinguish an Aldolase B deficiency from an Fructose-phosphatase failure... Effectively making them the same Medical condition.


That leads to...

7... hydroxynaphthaldehyde phosphate and many derivaves (used to detect radiation and in photography) are known to cause permanent damage to the Fructose-phosphatase Enzyme


I will have to think about changing the parenthetical differentiation to something more appropriate.

[lazerlee]

Apparently the biopsy does actually count the various Enzymes... Not sure how (or if) a lab would bdetermine that a Fructose-phospatase Enzyme was permanently damaged...

[lazerlee]

HFI (fBpase) is short and sweet.. .


And there are known genetic defects that cause life threatening situations for infants

pubmed.ncbi.nlm.nih.gov/30683805/#:~:text=Specific%20residues%20of%20the%20highly%20regulated%20fructose-1%2C6-bisphosphatase%20%28FBPase%29,the%20coding%20region%20of%20the%20FBPase%20g%20%E2%80%A6

It appears that only a genetic test of the FBPase Gene can distinguish it from an Aldolase B deficiency.

[lazerlee]

The FBP Enzyme is replaced by the HNF4 replication-Transcription Factor... Also subject to viral hijacking.

Damage to this Enzyme is only permanent until the Autophagezome (also subject to hijacking) identifies the Enzyme needs to be replaced.

[ukbill]

LOL as always you claim I say things I have not said.. You do seem to take a lot of time making up things you think I have said or miss representing what I have said totally.

FBPase is a completely different none associated condition and in no ways shows any symptoms similar to HFI.

As usual you are way off the mark and making claims that do not exist.

A genetic test dose not exclude HFI totally however it is the ONLY safe test to perform on someone reporting to have HFI symptoms.

These days even if the genetic test comes back negative yet the symptoms exist, most Doctors will tell people to stay on a safe Fructose / Sucrose / sorbitol etc free diet because it is actually a very healthy diet to be on.

You asked "Question:

If HFI (Aldalose B Deficiency) is strictly a genetic condition... Then why do your genetic statistics dramatically excede your identified people?

ukbill

"There should be over 4,500 HFi people in the UK for example.. less than 500 have ever been identified. In the UK one HFI child is born every week and it is a national disgrace that there is no testing at birth for the condition."

(A strictly genetic disorder that cannot be identified with a genetic test at birth, even with mass testing of children born in public medical facilities...?)"

The answer is many of us die undiagnosed!

Most frequently if given formula milk at birth when sent home as "failure to thrive" or at weaning if parents insist in feeding sweets, fruit and vegetables to their HFI child. Those of us born to religiously vegetarian parents do not do well. A Vegan diet would kill any of us in short order.

Some of us have survived without diagnosis also however usually by their middle age years damage done by not being on a safe diet usually brings us to the attention of the medical profession who these days are getting quite good at identifying us.

I hope this helps anyone confused by your miss information.

[lazerlee]

"No only number 5 actually, a Genetic difference to people who can metabolise Fructose.

All the rest are not HFI but Fructosemia or something totally different alike in only one point, that it may cause issues with Fructose consumption."


...


"
These days even if the genetic test comes back negative yet the symptoms exist, most Doctors will tell people to stay on a safe Fructose / Sucrose / sorbitol etc free diet because it is actually a very healthy diet to be on."





The rhetorical technique is called a "Straw man" - by denying possibilities it becomes truthful to deny any specific understanding/interpretation of the language.

By the radiance of your gas-light I read the quote:

"The lady doth protest too much, methinks" - William Shakespeare

[lazerlee]

UKBill,

How long have you and Prof. Cox been putting on this "Chicken Little" illusion about common (but healthy) variations in Aldalose B... that allegedly require a specific kind of diet?

Did he get the desired research money from the NIH in his "Quest" to study the genome of Aldalose B?

And about those children, instead of helping to get them proper treatment/medical care for a viral infection or other cause, your answer was that they suffer because of the alternative(but heathy) gene (or normal Gene)....

It is easy to be an armchair Captain Ahab pointing out the Great White Wale of the Aldalose B Gene. It has been more than 30 yrs, time to put away the fiction.

[ukbill]

LOL so you know more than the professor who identified the 1st gene (and many others) responsible for HFI and know SOOOO much more than he dose.. lol The man who has run research programs for 40+ years into HFI world wide?
Not only into HFI but many other genetic conditions as well?
The very man who is the "GO TOO" speaker in medical conferences world wide and who even long into his retirement is traveling constantly world wide working on HFI and other genetic conditions?

I have to give you credit for (totally and utterly misplaced) self confidence!

[tummyache]

I agree with UKBill, I have been reading lazerlee for some time now and much of what he has to say is crockery [tom-foolery, foolishness] . The only thing I might add to this crazy discussion is that it is my belief that some snp's are more potent than others when it comes to pathengencity and that there might be a continuum in HFI where some folks make some small amount of needed enzymes that allow them to metabolize a small amount of fructose/sucrose/ sorbitol --enough so that they didn't die as infants, but not enough to keep them from being healthy either. That is why some of us made it through babyhood; plus the fact we had parents who were more lenient food wise and adjusted our diets to accommodate our dietary needs more. I may be totally "off the wall" with this idea and Bill may not agree...it is just a suspicion that I hold.

[lazerlee]

It would be nice to have professional Medical experience to evaluate the claims to refine the possiblities...

However the Crockery of UKbill drives out any interest of serious study.

[lazerlee]

What surprised me is that the organic compound hydroxynaphthaldehyde phosphate is a "known" toxin created by microorganisms to fight other organisms and has the effect of making the FPBAse Enzyme disfunctional/Causes liver damage.


It also surprised me when I discovered that their is no published standardized criteria for an initial diagnosis of HFI, Doctors in essence share notes and give their opinion. The confirmation tests are standardized. A Genetic testing for AldoB or FBPase Genes are not part of the confirmation tests.

[ukbill]

Feb 14, 2022 9:08:05 GMT -5 tummyache said:

I agree with UKBill, I have been reading lazerlee for some time now and much of what he has to say is crockery [tom-foolery, foolishness] . The only thing I might add to this crazy discussion is that it is my belief that some snp's are more potent than others when it comes to pathengencity and that there might be a continuum in HFI where some folks make some small amount of needed enzymes that allow them to metabolize a small amount of fructose/sucrose/ sorbitol --enough so that they didn't die as infants, but not enough to keep them from being healthy either. That is why some of us made it through babyhood; plus the fact we had parents who were more lenient food wise and adjusted our diets to accommodate our dietary needs more. I may be totally "off the wall" with this idea and Bill may not agree...it is just a suspicion that I hold.

Unfortunately we are beset by someone here who has serious "issues" and wants to vent them somewhere and has fallen on our forum.
Pity we can do without all this useless spamming of the forum.

[carolyn]

I have to ask..... does lazerlee have HFI? I am a retired nursing professional with HFI. I agree entirely with ukbill and tummyache. I have lived with this condition all my life. I have read numerous published studies and papers on the subject. If someone claims to know better than the respected researchers and scientists then get your information peer reviewed and published in a respected medical journal please. We could be missing out on breaking research here! A respected journal and not this forum is the place to be presenting this information. I'd be fascinated to see the references for the information please!