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Re: Neonatal Homocystinuria Screening PuzzlementFrom: Allan James Fisher (afish04@emory.edu)Mon Apr 8 15:32:05 1996
Bert, Sorry for the delay... The CORN data from 1992 (latest material available) show that there are 20 states and the District of Columbia and the Virgin Islands screen neonates for Homocystinuria. The states are: Alaska, Arizonia, Colorado, Delaware, Georgia, Idaho, Indiana, Maine, Maryland, Massachusetts, Nevada, New Hampshire, New York, Ohio, Oregon, Rhode Island, Vermont, Virginia, Wisconsin, and Wyoming. The test, unfortunately, is about 50% sensitive for the classic Cystathione beta synthase deficiency. Interestingly, the incidence is highest in the Irish, 1/10 000. In the USA, the quoted frequency is 1/ 100 000 or 200000 live births. Those with the methylene tetrahydrofolate reductase deficiency (most severely affected) do not have elevated methionine levels. Thus the neonatal screening test does not detect those affected with MTHFR deficiency since it's the elevated methionine that the screening test indicates an affected individual. Fortunately, the most severe MTHFR deficient patients are very rare. Known obligate heterozygotes with a known affected fetus who has been "treated" in utero has not yet been documented. However, this may requires a methionine reduced diet. As you are aware, methionine is an essential amino acid. If you reduce this amino acid too much, one may get growth restriction in the fetus and bone marrow suppression in the mother and fetus. So how to treat... maybe with vitamin B6 (if B6 responsive) and/or folate/B12 supplementation and leave the dietary methionine without restriction. The other question is how would you monitor your therapy? I do not have a good answer for you since obligate heterozygotes have a slightly elevated total Homocyst(e)ine but normal free HCY. Methionine (free) levels are also "normal" in carriers. The most impressive data thus far is early intervention started in the newborn period. If you have anyother comments or would like to talk, please e-mail or contact me through my voice mail. Thanks. Allan Fisher, MD Maternal-Fetal Medicine Medical Genetics Fellow Emory University Atlanta, GA e-mail afish04@emory.edu V-mail (404) 727-0496
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