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Article

Spectrum and characterization of bi-allelic variants in MMAB causing cblB-type methylmalonic aciduria.

Human genetics - 1 Jul 2022

Forny Patrick, Plessl Tanja, Frei Caroline, Bürer Celine, Froese D Sean, Baumgartner Matthias R

Abstract excerpt

Pathogenic variants in MMAB cause cblB-type methylmalonic aciduria, an autosomal-recessive disorder of propionate metabolism. MMAB encodes ATP:cobalamin adenosyltransferase, using ATP and cob(I)alamin to create 5'-deoxyadenosylcobalamin (AdoCbl), the cofactor of methylmalonyl-CoA mutase (MMUT). We identified bi-allelic disease-causing variants in MMAB in 97 individuals with cblB-type methylmalonic aciduria,...

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Share to Adaptor Proteins, Signal Transducing
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Amino Acid Metabolism, Inborn Errors

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Identifiers

PMID: 34796408
DOI: 10.1007/s00439-021-02398-6
PMCID: PMC9262797

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