FDPase Test? Kristen?

[Chelsea]

It's been a long few days a work but I saw your IM Kristen and would love more info. If I can get started on this quickly enough, who knows? Liver biopsy? Wouldn't a blood test be great.

[Chelsea]

Here you can read more here.

www.ingentaconnect.com/content/klu/boli/2002/00000025/00000001/00405213#search=%22Fructose%201%2C6-Bisphosphatase%20kikawa%22

I have seen it before but I guess i never thought too much about it, not sure why. I just spoke with the genetics counselor that will get more info and talk to our Dr. I spoke with my ped last night about it (called her for a different reason) and she really wants me to pursue it.

I have decided however, I will not be postponing the liver biopsy to wait for this. I must have closure. I will let you know when I know more.

[Chelsea]

Finally a response from Japan. We have decided not to postpone the liver biopsy but I hope this info will help others. The kikawa email in all the literature doesn't work, so below you will find new contact information.

The part I find interesting is his comment on Japanese patients. I guess I would need further information to feel as if the blood test would be as accurate with a European desent. Looking at Tolan's site he emphasizes European and American pool.

[glow=red,2,300]Our established new method using patient's blood for detection of FBPase - deficiency could be used at the detection frequency of mutations, 73% in the coding region for FBPase protein in Japanese patients. As you know, this is less invasive for the patients.

Please contact us if you will need any help. I and Dr. Kikawa may be able to assist you.

Praying the health of your daughter.

Sincerely, Manabu INUZUKA



–––––––––––––––––––––––––––––––
Professor Manabu INUZUKA
Department of Biochemistry and Bioinformative Sciences
Faculty of Medical Sciences
University of Fukui
23-3 Matsuoka-Shimoaizuki, Eiheiji, Fukui 910-1193, JAPAN
Phone/Fax [phone]
FAX [phone]
@@e-mail: [e-mail] [/glow]

[Chelsea]

I followed up with the contacts in Japan and received a lengthy email back from Dr Kikawa whom is now in private pediatrics. I knew it wasn't going to be helpful for us but since I had the contact information I thought I could help others coming here about FDPase / FBPase testing.

It appears the testing is really not available anymore, though the last chance would be the contacts in Germany. Here is his email. Perhaps one of Dr Korson's patients can find more for us on his connections but it is unlikely Japan.


Dear Chelsea ,

Thank you for asking about availability of FBPase deficiency using cultured lymphocyte fraction.
I and Prof Inzuka developed this method as an alternative method for this disease to liver biopsy. This method can be used both for enzymatic and genetic diagnosis. Please note that enzymatic diagnosis is most important and reliable, because genetic mutation can not be found in some patients.@

I hear that you are working with Dr Raff depts.washington.edu/genediv/mraff.shtml. This test is already established method, however, it takes some time and effors to start this test in any laboratory. Probably, he can not do this work in this lab also other labs in USA. This is why you can not find a labo for this method in USA


I am sorry to say that at present we are unlikely to be available for your request. I hope that informations described below will be helpful. I keep my finger crossed for your child and others with disease including FBPase deficiency. Prognosis of this disease is quite good, as you may know, once diagnosis is established and proper care was stared. Good luck for them. If you have more question, I will be happy to answer, although I myself can not perform this test. I am now working as primary care pediatrician

Yoshiharu Kikawa, MD, PhD
Tel: Japan(81)-776-58-0789
[e-mail]


1) From Germany: Enzymatic testing for FBPase deficiency either uncultured or cultured lymphocytes fraction ?
www.metabolic-genetic-disease.gmxhome.de/

We had done research on FBPase deficiency in Europe with President: Dr. med. Teodor Podskarbi and Scientific advisor: Prof. Yoon S. Shin of this lab. They are good friends of mine. However, I am not sure that they are doing by cultured lymphocytes fraction. Please ask them.



2) From India: Enzymatic testing for FBPase deficiency either uncultured or cultured lymphocytes fraction ?

Hi,
We can perform enzyme testing for Fructose 1,6 bisphosphotase at our
laboratory. DNA testing is not possible currently.
Regards,
Dr.Ananth N Rao
Chief,
Metabolic Disorders Laboratory
Amrita Institute of Medical Sciences
& Research Centre
Elamakkara P.O.
Cochin 682 026, Kerala, INDIA
Phone: [phone] (Direct), 2801234/2804321 Ext. 4894/8094
Email: [e-mail] / [e-mail]



3) From USA: On enzymatic diagnosis by liver samples or genetic analysis

In response to Georgianne's question about sequencing the
fructose-1,6-biphosphatase (FBPase) gene to avoid doing a liver biopsy,
I've read the 4 relevant papers and most of the patients with FBPase
deficiency have had mutations detected in genomic DNA. There is a common
mutation in exon 7 previously found in patients from Japan, Germany, and
the US (a Duke patient).

Dwight

Dwight D. Koeberl, MD,PhD
Division of Medical Genetics/Department of Pediatrics
DUMC Box 3528, Bell Building
Duke University Medical Center
Durham, NC 27710
Tel: [phone]; FAX: [phone];
Email: [e-mail]

4) From Chiago, USA
calbears.findarticles.com/p/articles/mi_qn4155/is_20000918/ai_n13877709

On 2000, in Florence I did enzymatic FBPase deficiency using cultured lymphocytes fraction from Chiago.
However, the patient was found not to be FBPase deficiency

[alice]

Dr. Korsen sounds like a great doctor, great guy... but I've never met or spoken to him. I wonder if his ears are ringing? ha ha
It is too bad that the Japan avenue is not an option any longer?
Alice