Word: galactosemia
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Last week a California researcher described a cheap test that will quickly show whether a baby has galactosemia...
...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...