Word: phenylketonuria
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Dates: during 1960-1969
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...Louis Marie Lejeune, 36, of Paris, went to work with Tjio's techniques and soon found that victims of mongolism, who suffer varying degrees of mental retardation, have 47 chromosomes. Dr. Lejeune also reported recently that mongoloids have a metabolic abnormality that works in the opposite way from phenylketonuria. Partly because of the extra chromosome, their systems produce too much of an enzyme that breaks down tryptophan, an essential component of proteins involved in the functioning of the brain. Dr. Lejeune's award: $8,333, plus $25,000 for research...
Treatment for PKU. Basil O'Connor, head of the National Foundation (the old March of Dimes group), pointed out that at least two 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...