Word: galactosemia
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Dates: during 1960-1969
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Last week a California researcher described a cheap test that will quickly show whether a baby has galactosemia...
...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...
...inborn errors can now be treated. In phenylketonuria (PKU), an infant is unable to metabolize phenylalanine (one of the basic components of many proteins) and is in danger of severe mental retardation. Treatment consists simply of giving the child foods that are specially processed to remove phenylalanine. In galactosemia. the inability to convert galactose (which the body derives from milk) to glucose, untreated infants are prey to fulminating, fatal infections, and survivors suffer severe physical and mental retardation and blindness. The answer is to cut out milk, or anything containing the galactose molecule...
While PKU is rare (once in 25,000 births) and galactosemia is probably even rarer, one in every 16 U.S. infants is born with some defect, many of which, untreated, may be handicapping or fatal, said O'Connor. And the scientists are closing in on other disorders suspected of being transmitted by genes, the giant molecules of heredity: diabetes, gout, some forms of mongolism, cretinism, cystic fibrosis, muscular dystrophy, the inability to make protective antibodies against bacteria, and many other disorders of the blood, besides obvious physical defects...