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

Dagbjört AgnarsdóttirVaka Kristín SigurjónsdóttirArna Rut EmilsdóttirErna PetersenGunnlaugur SigfússonIngólfur RögnvaldssonLeifur FranzsonHilary VernonHans Tomas Bjornsson
Published in: Molecular genetics & genomic medicine (2022)
Other than these three mild decompensations, patient had very good metabolic control, thus demonstrating that even without frequent metabolic decompensation, cardiomyopathy can be an observed phenotype in cblB-type MMA even very early in life, suggesting that this phenotype may be independent of metabolic control.
Keyphrases
  • heart failure
  • case report
  • early onset