The Pathogenesis of Phenylketonuria
Falkenstine, JoAnn Sue (Sue)
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This work is divided into three parts. The first explains the manifold facets of the disease. The defective gene, enzyme abnormality and clinical manifestations are discussed. The second part represents an attempt to correlate existing knowledge of the three postulates of Garrod's thesis and to provide a pathogenic sequence by which a defective gene can effect the clinical abnormalities in the disease. The final section is concerned with the primary pathogenic problem of the disease, the etiology of the mental defect. The explanations furnished are only hypothetical in nature and cannot be substantiated until further information is presented.