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Abstrato

The clinical course of disorders of glycosylation of proteins in combination with numerous signs of dysembryogenesis

Dmytro Tokariev

Recently, significant practical interest is caused by genetically determined diseases, mainly with autosomal recessive type of inheritance, caused by disorders of the process of glycosylation of proteins - congenital disorders of glycosylation (CDG).

According to current data, the leading clinical manifestations of these diseases are various neurological disorders - convulsions, psychomotor developmental delay, various, quite severe somatic disorders - respiratory disorders, manifestations of cardiomyopathy, gastrointestinal disorders, including protein-losing diarrhea, anemia and hematological manifestations. , hemorrhagic syndrome, immunodeficiencies in the form of manifestations of threatening bacterial infections and others, often against the background of numerous stigmas of dysembryogenesis (small anomalies of development), with the onset of manifestations since the neonatal period.

Multiorgans, multisystem disorders in these diseases are caused by a violation of one of the key biological processes - glycosylation, due to which the carbohydrate part joins the polypeptide chain and synthesizes a fully functional molecule.

Given the fact that most of the currently known CDG is characterized by the presence of various somatic and neurological disorders in combination with small anomalies of development, it is possible to assume the relationship between clinical and phenotypic manifestations and the nature of glycosylation disorders of certain proteins, including alpha-1-acid glycoprotein.

For this, it was proposed to use a specially developed scale for assessing the phenotype for the early diagnosis of genetically determined diseases, in particular, CDG.