MOLECULAR-GENETIC ASPECTS OF METHYL-MALONIC ACIDURIA DEVELOPMENT (REVIEW)

meTilmalonuri aciduriis ganviTarebis molekulur-genetikuri aspeqtebi (mimoxilva)
МОЛЕКУЛЯРНО-ГЕНЕТИЧЕСКИЕ АСПЕКТЫ РАЗВИТИЯ МЕТИЛМАЛОНОВОЙ АЦИДУРИИ (ОБЗОР)
Zharmakhanova G. Syrlybayeva L. Kononets V. Nurbaulina E. Baikadamova L.
April 2021 Georgian Association of Business Press

Georgian Medical News
2021 #313 Issue 4 118 - 124 pp.

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. Early diagnosis by tandem mass spectrometry is extremely important, since timely treatment started (diet therapy, the use of hydroxycobalamin in the B₁₂-dependent form) prevent an unfavorable outcome and allow a high degree of rehabilitation for children with this pathology. Moreover, the identification of the primary molecular genetic defect makes it possible to adjust the patient management tactics and to carry out further prenatal diagnosis of the pathology in subsequent pregnancies.

inherited metabolic disorders , methylmalonic aciduria , mitochondrial dysfunction , organic acid disorders

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West Kazakhstan Marat Ospanov Medical University, Department of Molecular Biology and Medical Genetics, Kazakhstan
Department of General Medical Practice, Kazakhstan
Medical Center Aktobe, Kazakhstan

West Kazakhstan Marat Ospanov Medical University
Department of General Medical Practice
Medical Center Aktobe

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