Congenital abnormalities in protein synthesis.
نویسندگان
چکیده
ADDRESS: (D.C.) 300 Longwood Avenue, Boston 15, Massachusetts. -1 JfOST, if not all, of congenital metabolic lvi disease may be attributed to abnormalities in protein synthesis. An error in protein synthesis can result in at least two basic types of disturbance-an actual deficit of a specific protein, or the production of abnormal forms of that protein. Because of the wide variety of functions of this class of substances, the result may manifest itself as a disturbance in the metabolism of fats, carbohydrates or amino acids, or a disturbance of protein interactions. While the clinical manifestations of some disorders may be related directly to the deficit of a specific protein, in others symptoms are related indirectly to a specific protein deficiency (Fig. 1). This is particularly true in those instances where the protein, which is deficient, acts as an enzyme in intermediary metabolism, and the symptoms of disease may be due either to an accumulation or a deficit of specific metabolites or electrolytes. In still other instances, clinical disease is related not to the absence of a normal protein but to the presence of an abnormal protein which does not function in the same way as its normal analogue. It is not the purpose of this paper to discuss all the inborn errors of protein metabolism, but to give a brief account of some examples to illustrate the fundamental importance of protein synthesis to human health.
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ورودعنوان ژورنال:
- Pediatrics
دوره 21 6 شماره
صفحات -
تاریخ انتشار 1958