[MOLECULAR-GENETIC ASPECTS OF METHYLMALONIC ACIDURIA DEVELOPMENT (REVIEW)].
Georgian Med News
; (313): 118-124, 2021 Apr.
Article
em Ru
| MEDLINE
| ID: mdl-34103442
ABSTRACT
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.
Buscar no Google
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Erros Inatos do Metabolismo dos Aminoácidos
/
Ácido Metilmalônico
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
/
Screening_studies
Limite:
Child
/
Female
/
Humans
/
Pregnancy
Idioma:
Ru
Revista:
Georgian Med News
Assunto da revista:
MEDICINA
Ano de publicação:
2021
Tipo de documento:
Article
País de afiliação:
Cazaquistão