Download e-book for kindle: Advances in Human Genetics by Harvey L. Levy (auth.), Harry Harris, Kurt Hirschhorn (eds.)

By Harvey L. Levy (auth.), Harry Harris, Kurt Hirschhorn (eds.)

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This new information may produce significant alterations in our concepts of the nature of these disorders, both clinically and biochemically. The following discussions will center on the concept of each disorder within the broad goals of mass genetic screening. DISORDERS DIAGNOSED BY SCREENING 1. AMINO ACID DISORDERS Phenylketonuria (PKU) Perhaps no genetic disorder better illustrates the value of mass screening as an investigative as well as a therapeutic tool than does PKU. In a period of 28 years, from 1934, when PK U was first described,150 until 1962, when mass screening for PKU began, about 700 articles concerning PKU were published.

25,92 Though the precise nature of this response is not clear,314 it does seem that children and adults who respond to pyridoxine may have less severe clinical manifestations than those who do not show such a response. SO ,264 Several laboratory groups have been screening neonates for "classical" homocystinuria since 1967, when Guthrie170 introduced a bacterial inhibition assay for methionine. The presumption has been that neonates with "classical" homocystinuria will have hypermethioninemia and thus can be detected in this manner.

143 By 1968, after 95,000 newborns had been so tested and only one abnormal infant (with homocystinuria) detected who would not otherwise have been diagnosed,274 this test was discontinued on a routine basis. Among several hospitals within the Montreal area blood was obtained from 36,172 infants and sent by mail or taxi to a central laboratory where it was tested by the Scriver technique. 107 In the province of British Columbia 15,844 infants were tested by a modified Efron method. 238,241 It has become clear that even a very comprehensive screening program that utilizes only blood will not result in the detection of certain biochemical disorders.

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