In this article we analyze the literature data on the phenomenon of macroenzyme. The questions of the mechanisms of development of such a phenomenon, pathophysiological aspects are highlighted. We provided the study with the literature data on the genetic nature of the phenomenon as well as showing candidate genes, and describing variants. A rare variant of macroenzyme – macro–AST, is considered in detail, which, according to literature data, has descriptions of only isolated cases. An example of proper observation of a 12-month-old child with macro-AST is given, the manifestation and diagnostic search are described. It is shown that diagnosis in young children is difficult and time-consuming, and the assumption of the presence of the phenomenon is based on the exclusion of another pathology in the patient. Attention is drawn to the need for timely resolution of the issue of vaccination of a child in case of macro-AST, minimizing repeated studies of laboratory parameters of biochemical blood analysis and polypragmasy.
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A. B. Ershevskaya
Vestnik NovSU
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A. B. Ershevskaya (Wed,) studied this question.
www.synapsesocial.com/papers/68a6fb9b5502675167ba968b — DOI: https://doi.org/10.34680/2076-8052.2025.2(140).264-272