HFI on premed test

[sarahk]

biochemistryquestions.wordpress.com/2008/10/08/which-enzyme-is-it-anyway/

[colormist]

AGH! I don't know the answer!!

[sarahk]

Aldolase B

My problem with the question is that it reads: "Your presuntive diagnosis is a Hereditary Fructose Intolerance"....." I dont' think a doctor has EVER presumed someone has HFI...rather....they always like to say "it can't be HFI" or "What's HFI, huh?"

In my case, the doctor said: "I've been at this hospital for over 30 years and have never seen a real case...."

[colormist]

It should be rewritten as, "Your patient enters your office and says they have been researching their symptoms on the internet. They say they think they have Hereditary Fructose Intolerance. You disagree, but know that HFI is a genetic disease caused by a lack of:"

I still say HFI deserves an episode on HOUSE.

[sarahk]

I like your question. I stopped wathcing House this season.

There is a new user on this site-Lukesmom-who has been trying to convince her son's doctor now for the longest time (he's 2) that he has HFI-he didn't believe her-until the diagnsosis finally came in.

[David biochemistryquestions]

Hi, guys!

Thanks for the attention that you have paid to my blog.

I have been following your comments. I think that the goals of the blog have been clearly interpreted by Fred.

Unfortunately, I have met several patients with a congenital or infrequent metabolic disease whose diagnosis have been delayed because of the lack of a proper biochemistry basis. Medical Biochemistry is not only to know metabolic cycles, but mainly about applying the basic knowledge to the clinical settings.

In the question you are discussing… I really hope that after seen a patient vomiting, with jaundice and hemorrhage, that arrives to a hospital in a comatose state, and with laboratory tests that shows hypoglycemia with fructosemia (it is very specific), the physician be able of doing a presumptive diagnosis of Hereditary Fructose Intolerance.

The critical point would be the physician thinking about testing fructose in blood.

Apparently you have not seen these other two posts about HFI, since you have not commented them.

biochemistryquestions.wordpress.com/2008/04/10/about-a-baby-with-fructose-intolerance-c-02/

biochemistryquestions.wordpress.com/2008/04/13/a-about-a-baby-with-fructose-intolerance/


A very good review about this disease can be found in this link:

Roths, K.S.: Fructose 1 (P) Aldolase Deficiency (Fructose Intolerance)

Of course, a patient should not follow indications in Internet for the treatment of any disease, but I believe that this information can give information for discussing with the attending physician.

Thanks again for your attention, and if any of you want to do any comment about this disease from a patient perspective, please, feel free to write it as a comment in my blog.

[David again]

I'm sorry. I did not write properly the link to the review article:

Roths, K.S.: Fructose 1 (P) Aldolase Deficiency (Fructose Intolerance)

www.emedicine.com/ped/topic988.htm

[toothfairy]

To All;
A life long friend of mine is a PHD in Biochemistry and a Vice President of research for a major drug company. He has a CV that would impress anyone in his field. One of his research projects even made it to the cover of time magazine. This is his personal response on what future treatment or drugs that may be coming.

" I had never heard of HFI so I assume you mean Hereditary Fructose Intolerance. Quick search suggests it is pretty rare (1 om 10-20K births) with carrier frequency of 1 in 50, which obviously both parents must be. Even then the odds were 1 in 4 that the off spring would have inherited both affected alleles of aldolase B. [glow=red,2,300] A cure would entail gene therapy to replace the defective genes in at least some cells in the liver and that is currently not possible. "[/glow]
There are no drug coming from what I gathered.

[colormist]

Fred, I clearly skipped over the "baby" part of that question. I keep forgetting that infants do get diagnosed with HFI. Of course I'm happy that it's getting a bit more light in the press and medical articles/blogs, but I can't help but be a little bit jaded by our my personal experiences. My doctor had to look up HFI online to even know what I was talking about and my geneticist flat-out didn't believe me and merely proceeded to entertain me in order to disprove my self-diagnosis. I do wish I knew the statistics for babies are being diagnosed with HFI vs. youth/teenagers/adults being diagnosed with HFI. (Then you still have that other percentage of individuals out there who are convinced they are simply picky eaters.) It's probably more common now to diagnose a baby with HFI due to the prevalence of sugar in most foods.

Hi David! So, have you been lurking or did somebody point you in our general direction? I'm always wondering if any geneticists/doctors lurk around in this forum.

Very happy to see this line:
"• Only asymptomatic patients in a controlled setting should undergo intravenous fructose tolerance testing; do not use oral fructose tolerance testing because of the potentially violent GI response."

I don't know how traumatized I would have been if someone had forced me to do an oral fructose test. I have no idea how others here even allowed it to happen. I get shudders just thinking about it.

LMAO:
"A three year old male patient was transferred to your Hospital for further investigation of hepatomegaly. His parents were first cousins."

I can't help but wonder if you're examining my family tree.
Truth be told, my family tree does tend to connect to itself, but not as close as first-cousins. I have often wondered if any of my relatives also have HFI.

Toothfairy:
I'm pretty sure, even if there was some kind of miracle, gene-restructuring drug/medical procedure, that most of us (that already have a gag-reflex when presented with sweets) wouldn't even see the benefit from the change. I could definitely see it benefiting infants, though. Maybe if gene therapy does come about (which I think might have to be done even BEFORE you attempt to have a kid) then there would be able to be some type of intervention so you didn't produce a kid with HFI, but that takes ALL the fun out of making a baby.