Fructose Enzyme Assay at Duke University???

[esmee]

Deb McQueen posted this back in Feb 2010. Unfortunately the link she provides is broken. Does anyone know if this test is still the most accurate and, if so, who do we now contact? I know she posted her email somewhere in one of her responses, but I cannot find it now to email her about this. Thanks.

You might want to contact Duke University about their fructose assay and its availability to you. Here's a link to their Glycogen Storage Disease Lab which provides test and shipping info.

medgenetics.pediatrics.duke.edu/m....index.php?id=24

The HFI DNA testing currently available at Boston University is not conclusive according to Dr. Tolan. Only about 80% can be diagnosed via that method. When my family tested normal he recommended more "definitive" testing, the fructose assay referenced above, which has 100% accuracy. It measures the 3 liver enzymes needed for fructose metabolism and is diagnostic for fructose 1,6-biphosphate deficiency as well as Aldolase B deficiency. So the results will tell you how deficient you are in each of the enzymes, if at all, which in turn tells you how much fructose you can tolerate if any.

I am missing Aldolase B and severely deficient in the other two enzymes, which might explain why I can not have any form or amount whatsoever of fructose or sorbitol or artificial sweeteners or sucrose and cognates thereof.

For me, the real test was going totally fructose-free. Most of my symptoms resolved and those that remained were 80-85% better within weeks of achieving total fructose-free. Low fructose diets such as those shown on Boston University's website didn't work for me, kept me miserably symptomatic and seriously ill.

I went ahead and had the liver biopsy for the fructose assay as a measure to protect myself against the ignorance and negligence of the medical community re HFI. Am glad I did.

[tikitavi]

I just wanted to agree with this:

For me, the real test was going totally fructose-free. Most of my symptoms resolved and those that remained were 80-85% better within weeks of achieving total fructose-free. Low fructose diets such as those shown on Boston University's website didn't work for me, kept me miserably symptomatic and seriously ill.

I totally agree with you. I have been keeping a very careful food journal, and I've discovered the same thing as you. The low fructose diets posted on their site would still leave me very, very ill. I have to be totally fructose-free too. There's a little in the white flour that I use (100mg per 100g serving), and I can tell!

I wish there was a better test too. I do not have health insurance and can't afford the Boston test out-of-pocket right now, especially since it's not 100% diagnostic either. But, the more detailed my food journals are, and the longer I've been able to keep them, the more I think that my journals are probably more definitive than any test anyway!

[esmee]

I found the new link:

pediatrics.duke.edu/divisions/medical-genetics/biochemical-genetics-laboratory/glycogen-storage-disease-laboratory

[julienc]

Ironically, I was diagnosed with HFI at Duke University. Their metabolic clinic never mentioned a word about the glycogen storage disease lab. If you suspect HFI, the DNA testing is by far the best option. I believe they consider the test to now be approximately 90% accurate, and it is a simple blood test. It's the best place to start (in my opinion).

[esmee]

yes, that is the route i am going. i finally found the exact contact information for the Duke University lab through Dr. Tolan's site, but it is best to start with the genetic test first, as you say, and then go from there.

Here is the contact infor for Duke if anyone else wishes to pursue it:

Dr. Y.T. Chen
Department of Pediatrics
Division of Medical Genetics
Biochemical Genetics Laboratory
Duke University
Durham, NC 27710

919-549-0445 ex. 104
919-549-0709 fax

www.medgenetics.pediatrics.duke.edu