Word: galactosemia
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Potentially, the neural progenitor strategy could be used to treat this wider group of genetic ailments, which include Tay-Sachs, Gaucher's disease, galactosemia and dozens of other maladies that affect millions of people worldwide...
Kalckar premiered work in identifying the biochemical causes of disease. In one of the earliest cases in which the biochemistry of a disorder was analyzed, the researcher discovered the enzyme whose absence causes galactosemia, a genetic disorder which leads to severe mental handicaps and is characterized by an inability to use the sugar galactose...
...cells used by Molecular Biologists Carl Merril, Mark Geier and John Petricciani at the National Institutes of Health in Bethesda, Md. were taken from a victim of the hereditary disease called galactosemia. Because of a defect in the genes in the nuclei of his cells, the victim was unable to produce the essential enzyme that enables the body to metabolize galactose, a simple sugar found in milk and other dairy products. Unless an infant born with the defect is quickly placed on a milk-free diet, he faces malnutrition, mental retardation and even death...
...solution (which contains methylene blue) is blue. Blood from normal, healthy subjects turns it red within half an hour. But one of the 24 apparently healthy subjects whose blood Dr. Beut ler tested turned out to be abnormal: she was apparently a carrier of the recessive gene for galactosemia, for her blood took an hour to turn the solution red. A drop of blood from a galactosemic baby, who has inherited a double dose of the defective genes, one from each parent, will not turn the reagent red even if blood and reagent are incubated together for hours...
...Galactosemia is generally believed to be rare, and it probably is. But no one has been certain, because the tests have been so difficult. With Dr. Beutler's cheaper and simpler method many more cases of galactosemia will be found...