Post by tummyache on Jun 8, 2014 9:55:30 GMT -5
Yesterday I got a message from a fellow tester on a DNA board who recently made a discovery after she also tested DNA negative for Fructose 1,6-diphosphatase Deficiency [classic HFI], but looks positive for Fructose 1,6-bisphosphatase Deficiency when checking her raw data with a genetic specialist [another form of hereditary fructose intolerance connected to FBP1 on chromosome 9]. This got me to thinking, then digging through old stored files and research from the past (fortunately I had kept all my correspondence from the labs, etc, for the 15+ yrs I was involved in a University of Texas biomedical research program). Wow, it just sort of all clicked! I realized that I was probably accidentally diagnosed with Fructose 1,6-bisphosphatase Deficiency way back years ago when I was a patient/ginny-pig and they dx’d me with Fructose Intolerance. They were doing lymphocyte testing and found that my cells kept dying whenever they came in contact with a fructose medium, which they said was extremely unusual. Of course, in early 1970 they didn’t call it FBPase Deficiency [that was an unknown disease at the time] -- the doctor team working with them just said something is definitely not right here and you should limit eating too much fructose/fruit and especially stay away from all sugary foods and drinks. Well, yah! My body was already telling me that!
Around 2003 or so, I found the following journal article which I neatly filed away, and then today just rediscovered: Diagnosis of fructose-1,6-bisphosphatase deficiency using cultured lymphocyte fraction: a secure and noninvasive alternative to liver biopsy. Kikawa Y, Shin YS, Inuzuka M, Zammarchi E, Mayumi M., J Inherit Metab Dis. 2002 Feb;25(1):41-6.
It seems that the Japanese are still way ahead on the research in this field:
emedicine.medscape.com/article/943882
• In Japan, Iga et al reported a breakthrough for the screening of FDPase deficiency based on routine urine specimens.[7] Their work suggests that this method can rapidly determine FDPase deficiency in these patients either during a metabolic crisis or during the stable clinical condition. The technique combines modifications of the Matsumoto and Kuhara method of urinalysis with gas chromatography and mass spectrometry in the selected-ion monitoring mode. This landmark paper delineates the possibility of identifying many asymptomatic patients who may be undiagnosed, as well as patients misclassified with sudden infant death syndrome or Reye syndrome.
• Kikawa et al reported a minimally invasive diagnostic test using cultured lymphocytes.[8] This test is presently available only by contacting these investigators.
Wow! Thought this might be interesting to everyone.
Around 2003 or so, I found the following journal article which I neatly filed away, and then today just rediscovered: Diagnosis of fructose-1,6-bisphosphatase deficiency using cultured lymphocyte fraction: a secure and noninvasive alternative to liver biopsy. Kikawa Y, Shin YS, Inuzuka M, Zammarchi E, Mayumi M., J Inherit Metab Dis. 2002 Feb;25(1):41-6.
It seems that the Japanese are still way ahead on the research in this field:
emedicine.medscape.com/article/943882
• In Japan, Iga et al reported a breakthrough for the screening of FDPase deficiency based on routine urine specimens.[7] Their work suggests that this method can rapidly determine FDPase deficiency in these patients either during a metabolic crisis or during the stable clinical condition. The technique combines modifications of the Matsumoto and Kuhara method of urinalysis with gas chromatography and mass spectrometry in the selected-ion monitoring mode. This landmark paper delineates the possibility of identifying many asymptomatic patients who may be undiagnosed, as well as patients misclassified with sudden infant death syndrome or Reye syndrome.
• Kikawa et al reported a minimally invasive diagnostic test using cultured lymphocytes.[8] This test is presently available only by contacting these investigators.
Wow! Thought this might be interesting to everyone.
