HUM-MOLGEN archive: DIAG: 4 messages/2 PT Req.

************************************************************** HUM-MOLGEN DIAGnostics/Clinical Research ************************************************************** This DIAG message contains 4 submessage(s): 1) Pyruvate kinase deficiency--PT request 2) FSP/HSP--PT Request 3) Noonan Syndrome and Retinoblastoma 4) Galactosemia Carlo Gambacorti MD, Editor, Agnes Tay, MD PhD, Asst Editor Human Molecular Genetics Network Diagnostics/Clinical Research Section ******************************************************************************** 1. Pyruvate Kinase Deficiency--Pt Request Apparent Patient Location: United States REPLY DIRECTLY TO HUM-MOLGEN I need information on pyruvate kinase deficiency. My eight-month old granddaughter has had four blood transfusions and they are now discussing a bone marrow transplant. From the case studies on the internet, I was under the impression a splenectomy would be the first choice. No one in the state is familiar with this deficiency. Please help! Thanks -------------------------------------------------------------------------------- 2. Subject: FSP/HSP Apparent patient location: Ireland REPLY DIRECTLY TO HUM-MOLGEN Dear Sir/Madam, Firstly I have the condition mentioned. It is known by a few differant names. F.S.P Familial Spastic Paraplegia H.S.P Hereditary Spastic Paraplegia Strumpell`s disease. I am interested in information about the condition and also work/treatments. --------------------------------------------------------------------- 3. Noonan Syndrome and Retinoblastoma Hi everybody, We have seen a mother and her son with Noonan syndrome. Another sister, apparently unaffected by Noonan syndrome, has bilateral retinoblastoma. The mother is pregnant. 1. Does anybody have suggestions as to a possible connection between the two conditions ? 2. Can anybody help in prenatal diagnosis of Noonan syndrome? 3. What is the recurrence risk of sporadic retinoblastoma? Thanks for your help. Moshe Frydman MD Genetics Institute Sheba Medical Center Tel Hashomer Israel E-mail mfrydman@post.tau.ac.il Fax 972-3-5302914 -------------------------------------------------------------------------------- 4. Galactosemia I need information about restriction of dietary galactose during pregnancy in women who have had chidren with galactosemia. Prof.Giancarlo Biasini Ospedale "Bufalini" CESENA Italy email address: gibia@CESSN.UNIBO.IT ------------------------------------------------------------- ***** HUM-MOLGEN - Internet Communication Forum in Human Genetics E-mail: HUM-MOLGEN@nic.surfnet.nl WWW: http://www.informatik.uni-rostock.de/HUM-MOLGEN/ Phone: 020-566 4598 (The Netherlands), (206) 386-2101 (USA) Fax: 020-691 6521 (The Netherlands), (206) 386-2555 (USA) --------------------------------------------------------------- "copyright HUM-MOLGEN"