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J Pediatr ; 159(5): 862-4, 2011 Nov.
Article in English | MEDLINE | ID: mdl-21784454

ABSTRACT

Methylmalonic acidemia (MMA) is a heterogeneous disorder, with onset from infancy to adulthood and varying degrees of organ involvement and severity. Cardiac disease is a known lethal complication of other organic acidemias, but has not been associated with MMA. We identified 3 patients with MMA and cardiac disease.


Subject(s)
Amino Acid Metabolism, Inborn Errors/complications , Cardiomyopathy, Dilated/etiology , Cardiomyopathy, Hypertrophic/etiology , Aortic Valve Stenosis/diagnosis , Aortic Valve Stenosis/etiology , Cardiomegaly/diagnosis , Cardiomegaly/etiology , Cardiomyopathy, Dilated/diagnosis , Cardiomyopathy, Hypertrophic/diagnosis , Child, Preschool , Echocardiography , Electrocardiography , Fatal Outcome , Female , Humans , Lactic Acid/blood , Male , Pericardial Effusion/diagnostic imaging , Stroke Volume , Young Adult
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