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Screening for Inborn Errors of Metabolism.

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Report of a WHO Scientific Group.. 57 pages. World Health Organization Technical Report Series No. 401. World Health Organization, Geneva, 1968.. Price, $1.25. Available through The American Public Health Association, Inc., 1740 Broadway, New York, N. Y. 10019:

Ann Intern Med. 1969;70(3):672. doi:10.7326/0003-4819-70-3-672_4
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A concise survey of objectives, recommendations, and methods. Detailed attention given to disease with well-defined screening tests and management (phenylketonuria, tyrosinemia, maple-syrup urine disease, galactosemia, Wilson's disease), diseases manifest in a specific setting (porphyrias, pseudocholinesterase deficiency), and diseases presently not so readily fit into screening programs (adrenogenital syndrome, cystic fibrosis of the pancreas, muscular dystrophy, Hurler's syndrome, sucrase-isomaltase deficiency). Earlier reports considered abnormal hemoglobins, thalassemia, and glucose-6 phosphate dehydrogenase (see editorial note by Ian H. Porter, p. 250 of the January 1968 ANNALS). The United States was represented in the Group by A. G. Bearn (Chairman), and I. H. Scheinberg.


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