FBPase deficiency testing

* Re-posted here to ensure future reference for testing *


Hello all, I'm Lucky...

I may have some information that may be of assistance to others looking into Fructose 1,6 Bisphosphatase Deficiency (FBPase Deficiency).

We live in Canada. Two years ago in 2010 (when our son was 8yrs old), his FBPase Deficiency DNA testing was sent out of the country to Sheffield, England. We were told that there are only a couple labs in the world that perform such testing (and reliably) as it is so rare.

If your Metabolics (Genetics) team already has a sample of blood from a previous HFI test (like ours did), then a new sample may not even need to be taken from your child to send off for the test.

Alternatively, an in-hospital "Fasting Test" may also be performed. There are 4 metabolic disorders that do not do well under fasting situations... one of which involves fructose issues (FBPase deficiency).

This may be an option that can be discussed with your Metabolics team in order to explore it's value. Our son has had all three tests listed above (HFI, FBPase deficiency, Fasting test) as part of his "fructose issues" journey.

Here's some info:

Sheffield Diagnostic Genetics Service (SDGS) :
-Sheffield Children's Hospital, Sheffield, U.K.-
www.sheffieldchildrens.nhs.uk/our-services/laboratory-medicine/


* FBPase deficiency test : 4th test listed on the 7th page
sch.nhs.sitekit.net/downloads/labgenetics/LabGenetics_FullA-ZListOfGeneticTests.pdf


Diagnostic Breakdown information from Metagene :

* Hereditary Fructose Intolerance : (HFI)
metagene.de/program/d.prg?id_d=129

* Fructose 1,6 Bisphosphatase Deficiency : (FBPase deficiency)
metagene.de/program/d.prg?id_d=128


Please let me know if I can be of further assistance.

Best wishes,
Lucky.