Perry T L, Hansen S, MacDougall L
Can Med Assoc J. 1966 Jul 16;95(3):89-95.
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.
大量婴幼儿遗传性生化紊乱疾病会在早期导致智力缺陷和严重健康问题。如果能及时发现这些疾病，便可采取有效治疗措施预防智力缺陷的发展；或者在目前尚无治疗方法的情况下，为家长提供适当的遗传咨询，从而避免更多患病儿童的出生。本文介绍了八项简单的尿液筛查试验，这些试验已证明对早期发现看似健康的婴儿的代谢紊乱很有用。这些试验医生或护士无需经过特殊培训或使用精密设备就能轻松完成。本文旨在提请全科医生、儿科医生和公共卫生医生注意，通过对尿液和血液进行常规筛查试验，确实有可能预防某些形式的智力缺陷。
