INBORN ERRORS OF METABOLISM: SOME THOUGHTS ABOUT THEIR BASIC MECHANISMS

[摘要] The question of whether, in the inborn errors of metabolism, genetic information is absent or coded incorrectly (structural mutations), or whether the gene itself is normal but is not activated (regulatory defects) is extremely important in the directions taken for the future consideration of such problems. The problem of introducing new, well defined, genetic information into a human cell which is either lacking such information or has abnormal genetic information appears formidable at the current time. However, the existence of regulatory defects would imply that the correct information to make the deficient enzyme (s) is available to the cell, and we need only find ways of activating (inducing) this genetic information.

[学科分类] 儿科学