Isolated methylmalonic acidemia in Mexico: Genotypic spectrum, report of two novel MMUT variants and a possible synergistic heterozygosity effect.

ABSTRACT: Isolated methylmalonic acidemia (iMMA) is a group of monogenic metabolic disorders affecting methylmalonate and cobalamin metabolism. Five iMMA-responsible genes have been described to date: MMUT (MIM *609058), MMAA (MIM *607481, MMAB (MIM *607568), MMADHC (MIM *611935), and MCEE (MIM *608419). Although iMMA is the most common form of organic acidemia reported in Mexico, its genotypic spectrum is still largely unknown. We performed a clinical exome analysis on 42 unrelated Mexican patients with iMMA. MMUT deficiency accounted for 73.8 % of all cases, followed by MMAA (14.2 %), MMAB (7.2 %), and MMADHC (2.4 %) deficiencies. One patient presented MMUT and MMAA double heterozygosity, which should be further experimen

SUBMITTER: Fernandez-Lainez C 

PROVIDER: S-EPMC11530693 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature