title: Cardiac disease in methylmalonic acidemia.
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.
authors.affiliation: Division of Human Genetics, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH, USA.
authors.forename: Carlos E
authors.initials: CE
authors.lastname: Prada
authors.forename: Fatma
authors.initials: F
authors.lastname: Al Jasmi
authors.forename: Edwin P
authors.initials: EP
authors.lastname: Kirk
authors.forename: Maxwell
authors.initials: M
authors.lastname: Hopp
authors.forename: Owen
authors.initials: O
authors.lastname: Jones
authors.forename: Nancy D
authors.initials: ND
authors.lastname: Leslie
authors.forename: T Andrew
authors.initials: TA
authors.lastname: Burrow
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications*; D001024:Aortic Valve Stenosis / Q000175:diagnosis / Q000209:etiology; D006332:Cardiomegaly / Q000175:diagnosis / Q000209:etiology; D002311:Cardiomyopathy, Dilated / Q000175:diagnosis / Q000209:etiology*; D002312:Cardiomyopathy, Hypertrophic / Q000175:diagnosis / Q000209:etiology*; D002675:Child, Preschool; D004452:Echocardiography; D004562:Electrocardiography; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D019344:Lactic Acid / Q000097:blood; D008297:Male; D010490:Pericardial Effusion / Q000000981:diagnostic imaging; D013318:Stroke Volume; D055815:Young Adult
chemical_list: D019344:Lactic Acid