Publications by authors named "L Baikadamova"

Gestational diabetes mellitus (GDM) is chronic hyperglycemia during gestation in women without previously diagnosed diabetes. This hyperglycemia is caused by impaired glucose tolerance due to pancreatic β-cell dysfunction in the setting of chronic insulin resistance. GDM has been found to affect approximately 4-16.

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The review summarizes the current literature data on the inherited metabolic disorder of branched-chain amino acids - methylmalonic aciduria, characterized by high mortality, acute onset and crisis course. The paper presents the molecular genetic characteristics of the known thirteen different genes (responsible for the synthesis of methylmalonyl-CoA mutase, methylmalonyl-CoA epimerase and vitamin B12 metabolism), mutations of which lead to the development of methylmalonic aciduria. The current knowledge about the potential role of organic acids and their derivatives in the development of metabolic decompensation, toxic damage to the nervous system and internal organs is presented.

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The review summarizes the current knowledge about inborn errors of fatty acid metabolism (disorders of carnitine transport and mitochondrial fatty acid oxidation), characterized by high mortality, predominant damage of the central nervous system, heart, liver and skeletal muscles. The article presents the main clinical genetic features of diseases this group. After the introduction of newborn screening using the tandem mass-spectrometry (MS/MS), early identification of fatty acid metabolism defects became possible.

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The review highlights the current knowledge about the potential role of glycosaminoglycans in the induction of inflammation and development of damage of the functional systems of the organs by mucopolysaccharides (MPS). Undegraded glycosaminoglycans are stimulants of secondary events in the form of complex pathogenetic cascades: accumulation of secondary substrates unrelated to the defective enzyme, abnormal composition of the membranes, disorders of intracellular vesicular transport, impairment of autophagy, change of intracellular signaling (aberrant activation of signaling pathways), abnormalities of calcium homeostasis, oxidative stress. Understanding of the cellular processes underlying the pathophysiology of MPS helps to address the limitations of the existing therapies and to identify new therapeutic targets, which potentially form additional and effective ways of the therapy of the patients with MPS.

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