Extraordinary Measures

[colormist]

I was watching this movie last night. It was about kids with Pompe Disease. It's a genetic condition where the body cannot process the sugar glycogen. It's actually more rare than HFI.

I was only half-paying attention when I heard them explain the condition as hereditary and caused by mutations in a gene that makes an enzyme called acid alpha-glucosidase. My ears kept perking up more and more as I recognized the similarities in the two conditions (and later the extreme differences). The movie gave me hope that drug manufacturers would eventually come up with a way to treat HFI.

If you'd like to read more: www.ninds.nih.gov/disorders/pompe/pompe.htm

[sara]

HI, My daughter was diagnosed with HFI six months ago. Her only symptoms were an enlarged liver and hating fruits and sweets. As a physician myself, it was really hard being on the other side (the patient side) because I knew everything that was going on.

I wanted you to know that Boston University is doing research to try and replace the aldolase B enzyme which patients with HFI lack. If this works, this will be a cure for all of us.

[charlie]

I suppose the main problem with replacing the aldolase B enzyme is that it has to be in some form that will reach the liver as that is where it is missing from, and anything consumed will be broken down well before it gets there. Unless they can find another way to break all the fructose down before it gets to the liver.

A recent explanation of HFI that I found on MedlinePlus. Aldolase B is needed to break down the fructose.
If a person without this substance eats fructose and sucrose complicated chemical changes occur in the body. The body cannot change its energy storage material, glycogen, into glucose. As a result the blood sugar falls and dangerous substances build up in the liver.

So they have somehow got to stop the fructose getting to the liver in the first place maybe.