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Neonatal Homocystinuria ScreeninFrom: Terrence.Jones@ncal.kaiperm.orgFri Apr 5 20:24:39 1996
Bert, wish there was more time to put my thoughts together, but gotta' run. The topic of trans-sulfuration defects was discussed, peripherally, by Allan Fisher, a MedGen Fellow at Emory: In January (1/23/96) it was recurrent SAB, and February (2/15/96) it was ASCVD, embolic CVA and hormonal therapy. In each case it was pertaining to HHCY (hyperhomocysteinemia). Perhaps co-factor responsiveness is dependent on the mutation site of the CBS gene (see Sebastio Am J Hum Gen 6/95, 56: 1324-33). The animal model developed by Watanabe (Proc Nat'l Acad Sci USA 2/95, 92: 1585-9) may shed some light on intervention algorithms (tho for now they seem most interested in studying heterozygotes and ASCVD risk). Since this gene shows up later (VanAerts J Rep Fertil 3/95, 103: 227-32) than the other two (MS and SAH hydrolase) it's probably not the contributing factor in NTD's, which is the assoc I've found interesting, assoc with HHCY (see Steegers-Theunissen AJOG 5/95 172:1436, and Mills Lancet 1/95 345:149). Also, regarding transmethylation (homocysteine -- methionine), as a side topic, I'd be very interested to hear your thoughts on aminopterin syndrome. What connections between folate antagonism might result in the spectrum of unusual cranio-facial defects, coupled with the anomalies in the extremities? Interesting topic, Terry.
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