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Phenylketonuria 总被引:1,自引:0,他引:1
Phenylketonuria is a genetic defect that leads to imbecility, if the diagnosis is not made directly after birth. Since the development of imbecility can be almost totally halted by suitable dietary treatment, phenylketonuria is of more interest to neurochemists than to clinicians. This genetic defect is not known to occur in aminals. It is therefore necessary to develop suitable models for neurochemical analysis. Most successful is the simultaneous application to developing rats of alpha-methyl-phenylalanine (an inhibitor of phenylalanine hydroxylase), together with phenylalanine. With this treatment it is possible to induce changes in the central nervous system which are surprisingly similar to those found in patients with phenylketonuria. This model is therefore of great importance in the analyses of the disturbances of metabolism, which finally causes the severe defects in normal brain function. 相似文献