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[MOLECULAR-GENETIC ASPECTS OF METHYLMALONIC ACIDURIA DEVELOPMENT (REVIEW)].

Georgian medical news - 1 Apr 2021

Zharmakhanova G, Syrlybayeva L, Kononets V, Nurbaulina E, Baikadamova L

Abstract excerpt

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...

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PMID: 34103442

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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