Overcoming a Bad Gene
The Story of the Discovery and Successful Treatment of Phenylketonuria, a Genetic Disease That Causes Mental Retardati
- 212pages
- 8 heures de lecture
The narrative centers on a medical mystery spanning 70 years, beginning in Norway with Mrs. Egeland's desperate search for treatment for her two children, who developed severe mental retardation. Dr. Fölling identified their condition as phenylketonuria (PKU), a genetic disease affecting amino acid oxidation. While the subsequent development of a simple test and effective low phenylalanine diet came too late for Mrs. Egeland's children, these advancements have enabled thousands of other PKU-affected children to lead normal lives, marking a significant triumph in modern medicine.
