Abstract
A substantial number of genetically determined biochemical disorders in infants and young children produce mental deficiency and serious ill health in early life. If these diseases are detected promptly, effective therapy can be instituted to prevent the development of mental defect, or, where no treatment is presently available, the parents can be given appropriate genetic counselling so that the birth of further affected children can be prevented.
Eight simple urine screening tests are described which have proved useful in the early detection of metabolic disorders in apparently healthy infants. These tests can easily be performed by a physician or nurse without special training or elaborate equipment. The attention of general practitioners, pediatricians and public health physicians is directed to the real possibilities for preventing some forms of mental deficiency through the routine use of screening tests on urine and on blood.
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Selected References
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