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Article

Early cardiomyopathy without severe metabolic dysregulation in a patient with cblB-type methylmalonic acidemia.

Molecular genetics & genomic medicine - 1 Jul 2022

Agnarsdóttir Dagbjört, Sigurjónsdóttir Vaka Kristín, Emilsdóttir Arna Rut, Petersen Erna, Sigfússon Gunnlaugur, Rögnvaldsson Ingólfur, Franzson Leifur, Vernon Hilary, Bjornsson Hans Tomas

Abstract excerpt

BACKGROUND: Cardiomyopathy is a known complication of organic acidemias but generally thought to be secondary to poor metabolic control. METHODS: Our patient was found through biochemical testing and Sanger sequencing to harbor an Icelandic founder mutation: NM_052845.4(MMAB):c.571C > T(p.Arg191Trp), leading to an early presentation (4 h after birth) of cblB-type methylmalonic acidemia (MMA). Biochemical testing...

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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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Identifiers

PMID: 35712814
DOI: 10.1002/mgg3.1971
PMCID: PMC9266587

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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