Word: phenylketonuria
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Dates: during 1970-1979
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...first group consists mainly of people rated as severely or profoundly retarded-those with IQs ranging from 30 down. Usually these people, like Tracy Albertsen, have clearly detectable physical flaws. Some suffer from chromosomal abnormalities, such as Down's syndrome, or mongolism. Others have genetic problems such as phenylketonuria (PKU), a condition caused by lack of an essential enzyme. Still others acquire congenital infections like syphilis or are affected by German measles contracted by the mother...
...majority of genetic stigmas have somewhat more subtle symptoms and occur when defective genes fail to order the production of essential enzymes that trigger the body's biochemical reactions. Phenylketonuria (PKU) is caused by the absence of the enzyme necessary for the metabolism of the amino acid phenylalanine; as a result, toxins accumulate in the body and eventually cause convulsions and brain damage. Cystic fibrosis, which causes abnormal secretion by certain glands and respiratory-tract blockage that can lead to death by pneumonia, is the most common inborn error of metabolism; it is believed to be caused by a deficiency...