Cardiac disease in methylmalonic acidemia

J Pediatr. 2011 Nov;159(5):862-4. doi: 10.1016/j.jpeds.2011.06.005. Epub 2011 Jul 23.

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.

Publication types

  • Case Reports

MeSH terms

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

Substances

  • Lactic Acid

Supplementary concepts

  • Methylmalonic acidemia