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