Word: leschly
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...Come on Lesch. Give us a break...
...birth per 100,000. In all cases the genes have already been isolated and extensively studied. What is more, biologists hope that for at least two of the disorders, only a tiny amount of the enzyme need be produced to alleviate the worst symptoms. The & likeliest candidates: Lesch-Nyhan syndrome; adenosine deaminase deficiency, an immune disorder of the type that killed the famous "Bubble Boy"; and purine nucleoside phosphorylase deficiency, another illness of the immune system. As investigators learn ever more about gene regulation, however, they may tackle ever more complicated hereditary diseases, including sickle-cell anemia, diabetes and even...
...Crisis Continues: Middle East Update: Ann Lesch, MIT Room 4-270, enter at 77 Mass Ave., Cambridge...
...patients' enzyme systems. But what? Although it was easy to show that victims had an excess of uric acid in their blood, the metabolic pathways by which it got there remained hidden in the biochemical jungle. Then in Baltimore, Pediatrician William L. Nyhan Jr. and Dr. Michael Lesch saw two retarded brothers with the palsy and biting symptoms. It has since been learned that a substance was missing from their blood: an enzyme forbiddingly named hypo-xanthine-guanine phosphoribosyltrans-ferase, or PRT in the trade...
...Family. By now, 80 victims of the Lesch-Nyhan syndrome have been identified. Very few have survived beyond puberty; most are in institutions. All are boys, indicating that the enzyme defect is transmitted, like hemophilia, through the mother on an X chromosome, although she appears unaffected. Researchers at the National Institute of Arthritis and Metabolic Diseases checked to see whether the same enzyme deficiency could explain typical adult gout. It does in only a few cases, they reported last week. In one family, two gout victims have only about 1% of the normal PRT; in another family, it is about...