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Neonatal Homocystinuria Screening PuzzlementFrom: Bert Gold (bgold@itsa.ucsf.EDU)Thu Apr 4 18:28:37 1996
Friends, Several weeks ago, I posted a (slightly misworded) message requesting to know which states have neonatal screening programs for homcystinuria. I had read the sections of the latest edition of Scriver on the disease (Metabolic Basis of Inherited Disease) and concluded that neonatal therapy was perhaps not as propitious as I might have wished... Now, today, I have heard from a colleague in Manchester that I may be very mistaken in this regard, and yet I still have not achieved clarity concerning the vigilance of our states to screen for this disorder. I would note also that in my studies for the Genetics Board Exam today, I discovered that Indiana apparently also has a neonatal screening law for homocystinuria. Informative EMAILS are included below, FYI Wise suggestions concerning the future of screening and treating homocystinuria will be much appreciated by me. Please send them. Date: Thu, 21 Mar 1996 08:52:12 CDT From: Rjurik Golobjatnikov <RGK@prof.slh.wisc.edu> To: bgold@itsa.ucsf.edu Subject: Re: Prenatal Screening for Homocystinuria --LOTS OF STUFF EDITED-- To the best of my knowledge, there are still 6-10 states that do the screening. Should you wish to contact one, Massachuset's laboratory would be the surest bet (Dr. Harvey Levy). I hope this helps. Rjurik Golubjatnikov, Ph.D., M.P.H. Wisconsin State Laboratory of Hygiene U. of Wisconsin --SOME STUFF EDITED- I'm pretty sure Maryland screens neonates for homocystinuria, as does a lab in Pittsburgh (Ed Naylor's). --OTHER STUFF DELETED-- Chris Friedrich, M.D., Ph.D. Voice (410) 614-2521 Lipid Research-Atherosclerosis Unit Fax (410) 955-1276 Dept. of Pediatrics, CMSC 6-104 Voice mail (410) 614-1030 Johns Hopkins University School of Medicine 600 North Wolfe Street Baltimore, MD 21287
>From ed@willink.demon.co.ukThu Apr 4 16:49:58 1996 The newborn screening programme here in Manchester is based on one-dimensional chromatography of plasma. We detect pyridoxine-resistent cystathionine synthase deficiency on the basis of their raised methionine (we screen at 10 days). I was interested in your posting on sci.med where you indicated that the response to treatment in this group of patients is not good. This is not our experience in over 20 patients treated with a low methionine diet from the newborn period. The length of follow-up is up to 25 years. The outcome is extremely good, especially when compared to the untreated patient. -- Best wishes
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