Fructose Assay

[Deb Mc]

I am so happy and feel so relieved! My older son is finally getting a fructose assay done to confirm and define his HFI. He had the liver biopsy done today so we're looking @ 3-4 weeks for results. That was the turn around time for mine.

If anyone else has had a fructose assay done @ Duke and would be willing to share the results and compare notes, please feel free to email me privately at debmcqueen (at) hotmail (dot) com.

Thanks!

Deb Mc

[julienc]

Congrats - that is good news!

So...I'm curious. How did you all end up at Duke if you are from Arizona? My diagnosis was through the metabolic clinic at Duke, and they did not strike me as leading the field in HFI. I was only their 3rd HFI patient at the time.

No assay was performed, so I don't have any data to share.

[meaniejean]

As a side note to anyone who might come across this info: You can have a liver biopsy enzyme assay that suggests HFI but not actually have congenital HFI. Anything that damages the liver can cause Aldolase B and FDPase deficiencies. After the liver is recovered, it is sometimes important to repeat a biopsy in order to know for sure if the enzyme deficiencies are primary or secondary to another disorder.