Word: phenylketonuria
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...Massachusetts department of public health decided a year ago to turn the commonwealth into a proving ground for an all-out attack on an inherited metabolic disorder, phenylketonuria or PKU, which causes severe mental retardation. (At least 5,000 of the 5.5 million mentally retarded in the U.S. are PKU victims.) Because of a defective gene inherited from both parents, a PKU baby cannot make use of phenylalanine, which is found in most protein foods, and the poison that accumulates in his system as a result permanently damages the brain. But if PKU is detected early enough, a special diet...
...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...
...nuts in one of her bags and opened them to show to her family. Her trouble: allergy to cashews, which contain an 011 called cardal. Say the reporting doctors: U.S. travelers, now going to the tropics in increasing numbers, should be on guard. ¶ To detect cases of phenylketonuria (one of the few preventable causes of mental retardation) early enough to begin effective treatment with diet or drugs, the College of Medical Evangelists and Los Angeles City Health Department began a routine test for all infants taken to a child clinic. A drop of ferric chloride is applied...